메뉴 건너뛰기




Volumn 48, Issue , 2014, Pages 88-97

A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a

Author keywords

Cranial neural crest; Craniofacial; Hedgehog; Intraflagellar transport protein; Midline; Syndrome; Wnt

Indexed keywords

CARRIER PROTEIN; PROTEIN KIF3A; UNCLASSIFIED DRUG; WNT PROTEIN; KIF3A PROTEIN, MOUSE; KINESIN;

EID: 84906789832     PISSN: 08906238     EISSN: 18731708     Source Type: Journal    
DOI: 10.1016/j.reprotox.2014.05.009     Document Type: Article
Times cited : (31)

References (114)
  • 1
    • 0030307290 scopus 로고    scopus 로고
    • Syndromes, syndromes, and more syndromes
    • Gorlin R.J. Syndromes, syndromes, and more syndromes. J Dent Res 1996, 75:732-735.
    • (1996) J Dent Res , vol.75 , pp. 732-735
    • Gorlin, R.J.1
  • 2
    • 0031944805 scopus 로고    scopus 로고
    • Holoprosencephaly: from Homer to Hedgehog
    • Ming J.E., Muenke M. Holoprosencephaly: from Homer to Hedgehog. Clin Genet 1998, 53:155-163.
    • (1998) Clin Genet , vol.53 , pp. 155-163
    • Ming, J.E.1    Muenke, M.2
  • 3
    • 0034107360 scopus 로고    scopus 로고
    • Genetics of ventral forebrain development and holoprosencephaly
    • Muenke M., Beachy P.A. Genetics of ventral forebrain development and holoprosencephaly. Curr Opin Genet Dev 2000, 10:262-269.
    • (2000) Curr Opin Genet Dev , vol.10 , pp. 262-269
    • Muenke, M.1    Beachy, P.A.2
  • 4
    • 84883840171 scopus 로고
    • The face predicts the brain: diagnostic significance of median facial anomialies for holoprosencephaly (arhinencephay)
    • August
    • DeMyer W. The face predicts the brain: diagnostic significance of median facial anomialies for holoprosencephaly (arhinencephay). Pediatrics 1964, (August):256-263.
    • (1964) Pediatrics , pp. 256-263
    • DeMyer, W.1
  • 5
    • 4344646698 scopus 로고    scopus 로고
    • Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes
    • Cordero D., Marcucio R., Hu D., Gaffield W., Tapadia M., Helms J.A. Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes. J Clin Invest 2004, 114:485-494.
    • (2004) J Clin Invest , vol.114 , pp. 485-494
    • Cordero, D.1    Marcucio, R.2    Hu, D.3    Gaffield, W.4    Tapadia, M.5    Helms, J.A.6
  • 6
    • 23244451065 scopus 로고    scopus 로고
    • Molecular interactions coordinating the development of the forebrain and face
    • Marcucio R.S., Cordero D.R., Hu D., Helms J.A. Molecular interactions coordinating the development of the forebrain and face. Dev Biol 2005, 284:48-61.
    • (2005) Dev Biol , vol.284 , pp. 48-61
    • Marcucio, R.S.1    Cordero, D.R.2    Hu, D.3    Helms, J.A.4
  • 7
    • 0034921830 scopus 로고    scopus 로고
    • Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH
    • Schneider R.A., Hu D., Rubenstein J.L., Maden M., Helms J.A. Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH. Development 2001, 128:2755-2767.
    • (2001) Development , vol.128 , pp. 2755-2767
    • Schneider, R.A.1    Hu, D.2    Rubenstein, J.L.3    Maden, M.4    Helms, J.A.5
  • 9
    • 0016746976 scopus 로고
    • Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos
    • Lièvre C.S.L., Douarin N.M.L. Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos. J Embryol Exp Morphol 1975, 34:125-154.
    • (1975) J Embryol Exp Morphol , vol.34 , pp. 125-154
    • Lièvre, C.S.L.1    Douarin, N.M.L.2
  • 10
    • 0023687125 scopus 로고
    • The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo
    • Couly G., Douarin N.M.L. The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo. Development 1988, 103:101-113.
    • (1988) Development , vol.103 , pp. 101-113
    • Couly, G.1    Douarin, N.M.L.2
  • 11
    • 0027415509 scopus 로고
    • The triple origin of skull in higher vertebrates: a study in quail-chick chimeras
    • Couly G.F., Coltey P.M., Le Douarin N.M. The triple origin of skull in higher vertebrates: a study in quail-chick chimeras. Development 1993, 117:409-429.
    • (1993) Development , vol.117 , pp. 409-429
    • Couly, G.F.1    Coltey, P.M.2    Le Douarin, N.M.3
  • 12
    • 0026530822 scopus 로고
    • The developmental fate of the cephalic mesoderm in quail-chick chimeras
    • Couly G.F., Coltey P.M., Le Douarin N.M. The developmental fate of the cephalic mesoderm in quail-chick chimeras. Development 1992, 114:1-15.
    • (1992) Development , vol.114 , pp. 1-15
    • Couly, G.F.1    Coltey, P.M.2    Le Douarin, N.M.3
  • 13
    • 0035038659 scopus 로고    scopus 로고
    • The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain
    • Etchevers H.C., Vincent C., Le Douarin N.M., Couly G.F. The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development 2001, 128:1059-1068.
    • (2001) Development , vol.128 , pp. 1059-1068
    • Etchevers, H.C.1    Vincent, C.2    Le Douarin, N.M.3    Couly, G.F.4
  • 15
    • 43749100517 scopus 로고    scopus 로고
    • Shaping up and shipping out: the role of cilia in growth and patterning
    • Brugmann S., Helms J. Shaping up and shipping out: the role of cilia in growth and patterning. J Musculoskelet Neuronal Interact 2007, 7:300.
    • (2007) J Musculoskelet Neuronal Interact , vol.7 , pp. 300
    • Brugmann, S.1    Helms, J.2
  • 17
    • 0037227766 scopus 로고    scopus 로고
    • The vertebrate primary cilium is a sensory organelle
    • Pazour G.J., Witman G.B. The vertebrate primary cilium is a sensory organelle. Curr Opin Cell Biol 2003, 15:105-110.
    • (2003) Curr Opin Cell Biol , vol.15 , pp. 105-110
    • Pazour, G.J.1    Witman, G.B.2
  • 18
    • 38349000827 scopus 로고    scopus 로고
    • Intraflagellar transport motors in cilia: moving along the cell's antenna
    • Scholey J.M. Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol 2008, 180:23-29.
    • (2008) J Cell Biol , vol.180 , pp. 23-29
    • Scholey, J.M.1
  • 19
    • 34547110771 scopus 로고    scopus 로고
    • Patched1 regulates hedgehog signaling at the primary cilium
    • Rohatgi R., Milenkovic L., Scott M.P. Patched1 regulates hedgehog signaling at the primary cilium. Science 2007, 317:372-376.
    • (2007) Science , vol.317 , pp. 372-376
    • Rohatgi, R.1    Milenkovic, L.2    Scott, M.P.3
  • 20
    • 34548306769 scopus 로고    scopus 로고
    • Patching the gaps in Hedgehog signalling
    • Rohatgi R., Scott M.P. Patching the gaps in Hedgehog signalling. Nat Cell Biol 2007, 9:1005-1009.
    • (2007) Nat Cell Biol , vol.9 , pp. 1005-1009
    • Rohatgi, R.1    Scott, M.P.2
  • 21
    • 84867678037 scopus 로고    scopus 로고
    • A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia
    • Dorn K.V., Hughes C.E., Rohatgi R. A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia. Dev Cell 2012, 23:823-835.
    • (2012) Dev Cell , vol.23 , pp. 823-835
    • Dorn, K.V.1    Hughes, C.E.2    Rohatgi, R.3
  • 22
    • 84888433372 scopus 로고    scopus 로고
    • Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis
    • Basten S.G., Giles R.H. Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis. Cilia 2013, 2:6.
    • (2013) Cilia , vol.2 , pp. 6
    • Basten, S.G.1    Giles, R.H.2
  • 23
    • 0345255945 scopus 로고    scopus 로고
    • Intraflagellar transport
    • Scholey J.M. Intraflagellar transport. Annu Rev Cell Dev Biol 2003, 19:423-443.
    • (2003) Annu Rev Cell Dev Biol , vol.19 , pp. 423-443
    • Scholey, J.M.1
  • 25
  • 26
    • 34250838603 scopus 로고    scopus 로고
    • Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis
    • Koyama E., Young B., Nagayama M., Shibukawa Y., Enomoto-Iwamoto M., Iwamoto M., et al. Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis. Development 2007, 134:2159-2169.
    • (2007) Development , vol.134 , pp. 2159-2169
    • Koyama, E.1    Young, B.2    Nagayama, M.3    Shibukawa, Y.4    Enomoto-Iwamoto, M.5    Iwamoto, M.6
  • 27
    • 84879004103 scopus 로고    scopus 로고
    • Kif3a is necessary for initiation and maintenance of medulloblastoma
    • Barakat M.T., Humke E.W., Scott M.P. Kif3a is necessary for initiation and maintenance of medulloblastoma. Carcinogenesis 2013, 34:1382-1392.
    • (2013) Carcinogenesis , vol.34 , pp. 1382-1392
    • Barakat, M.T.1    Humke, E.W.2    Scott, M.P.3
  • 29
    • 68649098302 scopus 로고    scopus 로고
    • The primary cilium as a cellular signaling center: lessons from disease
    • Lancaster M.A., Gleeson J.G. The primary cilium as a cellular signaling center: lessons from disease. Curr Opin Genet Dev 2009, 19:220-229.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 220-229
    • Lancaster, M.A.1    Gleeson, J.G.2
  • 30
    • 79551587194 scopus 로고    scopus 로고
    • Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia
    • Wallingford J.B., Mitchell B. Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia. Genes Dev 2011, 25:201-213.
    • (2011) Genes Dev , vol.25 , pp. 201-213
    • Wallingford, J.B.1    Mitchell, B.2
  • 31
    • 0032428685 scopus 로고    scopus 로고
    • Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein
    • Nonaka S., Tanaka Y., Okada Y., Takeda S., Harada A., Kanai Y., et al. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 1998, 95:829-837.
    • (1998) Cell , vol.95 , pp. 829-837
    • Nonaka, S.1    Tanaka, Y.2    Okada, Y.3    Takeda, S.4    Harada, A.5    Kanai, Y.6
  • 32
    • 58749105340 scopus 로고    scopus 로고
    • Modeling ciliopathies: primary cilia in development and disease
    • Quinlan R.J., Tobin J.L., Beales P.L. Modeling ciliopathies: primary cilia in development and disease. Curr Top Dev Biol 2008, 84:249-310.
    • (2008) Curr Top Dev Biol , vol.84 , pp. 249-310
    • Quinlan, R.J.1    Tobin, J.L.2    Beales, P.L.3
  • 33
    • 44349147745 scopus 로고    scopus 로고
    • Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome
    • Tobin J.L., Di Franco M., Eichers E., May-Simera H., Garcia M., Yan J., et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A 2008, 105:6714-6719.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 6714-6719
    • Tobin, J.L.1    Di Franco, M.2    Eichers, E.3    May-Simera, H.4    Garcia, M.5    Yan, J.6
  • 36
    • 0019126423 scopus 로고
    • Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S
    • McLeod M.J. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 1980, 22:299-301.
    • (1980) Teratology , vol.22 , pp. 299-301
    • McLeod, M.J.1
  • 37
    • 82655189981 scopus 로고    scopus 로고
    • Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins
    • Larkins C.E., Aviles G.D., East M.P., Kahn R.A., Caspary T. Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins. Mol Biol Cell 2011, 22:4694-4703.
    • (2011) Mol Biol Cell , vol.22 , pp. 4694-4703
    • Larkins, C.E.1    Aviles, G.D.2    East, M.P.3    Kahn, R.A.4    Caspary, T.5
  • 38
    • 76649103368 scopus 로고    scopus 로고
    • The perennial organelle: assembly and disassembly of the primary cilium
    • Seeley E.S., Nachury M.V. The perennial organelle: assembly and disassembly of the primary cilium. J Cell Sci 2010, 123:511-518.
    • (2010) J Cell Sci , vol.123 , pp. 511-518
    • Seeley, E.S.1    Nachury, M.V.2
  • 40
    • 78649649129 scopus 로고    scopus 로고
    • Craniofacial ciliopathies: a new classification for craniofacial disorders
    • Brugmann S.A., Cordero D.R., Helms J.A. Craniofacial ciliopathies: a new classification for craniofacial disorders. Am J Med Genet A 2010, 152A:2995-3006.
    • (2010) Am J Med Genet A , vol.152 A , pp. 2995-3006
    • Brugmann, S.A.1    Cordero, D.R.2    Helms, J.A.3
  • 41
  • 42
    • 84875328554 scopus 로고    scopus 로고
    • The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling
    • Khonsari R.H., Seppala M., Pradel A., Dutel H., Clement G., Lebedev O., et al. The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling. BMC Biol 2013, 11:27.
    • (2013) BMC Biol , vol.11 , pp. 27
    • Khonsari, R.H.1    Seppala, M.2    Pradel, A.3    Dutel, H.4    Clement, G.5    Lebedev, O.6
  • 44
    • 84898971434 scopus 로고    scopus 로고
    • Primary cilia integrate Hedgehog and Wnt signaling during tooth development
    • Liu B., Chen S., Cheng D., Jing W., Helms J.A. Primary cilia integrate Hedgehog and Wnt signaling during tooth development. J Dent Research 2014, 93:475-482.
    • (2014) J Dent Research , vol.93 , pp. 475-482
    • Liu, B.1    Chen, S.2    Cheng, D.3    Jing, W.4    Helms, J.A.5
  • 46
    • 0034057170 scopus 로고    scopus 로고
    • Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis
    • Chai Y., Jiang X., Ito Y., Bringas P., Han J., Rowitch D.H., et al. Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 2000, 127:1671-1679.
    • (2000) Development , vol.127 , pp. 1671-1679
    • Chai, Y.1    Jiang, X.2    Ito, Y.3    Bringas, P.4    Han, J.5    Rowitch, D.H.6
  • 47
    • 0028093078 scopus 로고
    • Cis-acting regulatory sequences governing Wnt-1 expression in the developing mouse CNS
    • Echelard Y., Vassileva G., McMahon A.P. Cis-acting regulatory sequences governing Wnt-1 expression in the developing mouse CNS. Development 1994, 120:2213-2224.
    • (1994) Development , vol.120 , pp. 2213-2224
    • Echelard, Y.1    Vassileva, G.2    McMahon, A.P.3
  • 48
    • 0025696476 scopus 로고
    • Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development
    • Gavin B.J., McMahon J.A., McMahon A.P. Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development. Genes Dev 1990, 4:2319-2332.
    • (1990) Genes Dev , vol.4 , pp. 2319-2332
    • Gavin, B.J.1    McMahon, J.A.2    McMahon, A.P.3
  • 49
    • 0035034603 scopus 로고    scopus 로고
    • Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development
    • Brault V., Moore R., Kutsch S., Ishibashi M., Rowitch D.H., McMahon A.P., et al. Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development. Development 2001, 128:1253-1264.
    • (2001) Development , vol.128 , pp. 1253-1264
    • Brault, V.1    Moore, R.2    Kutsch, S.3    Ishibashi, M.4    Rowitch, D.H.5    McMahon, A.P.6
  • 50
  • 51
    • 0017290298 scopus 로고
    • The physics of the cranial cavity, hydrocephalus and normal pressure hydrocephalus: mechanical interpretation and mathematical model
    • Hakim S., Venegas J.G., Burton J.D. The physics of the cranial cavity, hydrocephalus and normal pressure hydrocephalus: mechanical interpretation and mathematical model. Surg Neurol 1976, 5:187-210.
    • (1976) Surg Neurol , vol.5 , pp. 187-210
    • Hakim, S.1    Venegas, J.G.2    Burton, J.D.3
  • 52
    • 0027441324 scopus 로고
    • Evaluation of proliferating cell nuclear antigen (PCNA) as an endogenous marker of cell proliferation in rat liver: a dual-stain comparison with 5-bromo-2'-deoxyuridine
    • Connolly K.M., Bogdanffy M.S. Evaluation of proliferating cell nuclear antigen (PCNA) as an endogenous marker of cell proliferation in rat liver: a dual-stain comparison with 5-bromo-2'-deoxyuridine. J Histochem Cytochem 1993, 41:1-6.
    • (1993) J Histochem Cytochem , vol.41 , pp. 1-6
    • Connolly, K.M.1    Bogdanffy, M.S.2
  • 53
    • 0002637733 scopus 로고
    • Treatment of hydrocephalus: an historical and critical review of methods and results
    • Scarff J.E. Treatment of hydrocephalus: an historical and critical review of methods and results. J Neurol Neurosurg Psychiatry 1963, 26:1-26.
    • (1963) J Neurol Neurosurg Psychiatry , vol.26 , pp. 1-26
    • Scarff, J.E.1
  • 56
    • 79960661515 scopus 로고    scopus 로고
    • Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
    • Keppler-Noreuil K.M., Blumhorst C., Sapp J.C., Brinckman D., Johnston J., Nopoulos P.C., et al. Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS). BMC Med Genet 2011, 12:101.
    • (2011) BMC Med Genet , vol.12 , pp. 101
    • Keppler-Noreuil, K.M.1    Blumhorst, C.2    Sapp, J.C.3    Brinckman, D.4    Johnston, J.5    Nopoulos, P.C.6
  • 57
    • 37649020306 scopus 로고    scopus 로고
    • A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
    • Davis R.E., Swiderski R.E., Rahmouni K., Nishimura D.Y., Mullins R.F., Agassandian K., et al. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A 2007, 104:19422-19427.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 19422-19427
    • Davis, R.E.1    Swiderski, R.E.2    Rahmouni, K.3    Nishimura, D.Y.4    Mullins, R.F.5    Agassandian, K.6
  • 58
  • 59
    • 0142104970 scopus 로고    scopus 로고
    • Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
    • Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003, 425:628-633.
    • (2003) Nature , vol.425 , pp. 628-633
    • Ansley, S.J.1    Badano, J.L.2    Blacque, O.E.3    Hill, J.4    Hoskins, B.E.5    Leitch, C.C.6
  • 60
    • 1442274810 scopus 로고    scopus 로고
    • Establishing a connection between cilia and Bardet-Biedl Syndrome
    • Mykytyn K., Sheffield V.C. Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med 2004, 10:106-109.
    • (2004) Trends Mol Med , vol.10 , pp. 106-109
    • Mykytyn, K.1    Sheffield, V.C.2
  • 61
    • 33749054088 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport
    • Blacque O.E., Leroux M.R. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci 2006, 63:2145-2161.
    • (2006) Cell Mol Life Sci , vol.63 , pp. 2145-2161
    • Blacque, O.E.1    Leroux, M.R.2
  • 62
    • 65649147891 scopus 로고    scopus 로고
    • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    • Zaghloul N.A., Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009, 119:428-437.
    • (2009) J Clin Invest , vol.119 , pp. 428-437
    • Zaghloul, N.A.1    Katsanis, N.2
  • 63
    • 0034002459 scopus 로고    scopus 로고
    • Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis
    • Johnson D., Iseki S., Wilkie A.O.M., Morriss-Kay G.M. Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis. Mech Dev 2000, 91:341-345.
    • (2000) Mech Dev , vol.91 , pp. 341-345
    • Johnson, D.1    Iseki, S.2    Wilkie, A.O.M.3    Morriss-Kay, G.M.4
  • 64
    • 2442484615 scopus 로고    scopus 로고
    • Mechanisms of murine cranial suture patency mediated by a dominant negative transforming growth factor-beta receptor adenovirus
    • Song H.M., Fong K.D., Nacamuli R.P., Warren S.M., Fang T.D., Mathy J.A., et al. Mechanisms of murine cranial suture patency mediated by a dominant negative transforming growth factor-beta receptor adenovirus. Plast Reconstr Surg 2004, 113:1685-1697.
    • (2004) Plast Reconstr Surg , vol.113 , pp. 1685-1697
    • Song, H.M.1    Fong, K.D.2    Nacamuli, R.P.3    Warren, S.M.4    Fang, T.D.5    Mathy, J.A.6
  • 65
    • 35748968230 scopus 로고    scopus 로고
    • Cell fate specification during calvarial bone and suture development
    • Lana-Elola E., Rice R., Grigoriadis A.E., Rice D.P. Cell fate specification during calvarial bone and suture development. Dev Biol 2007, 311:335-346.
    • (2007) Dev Biol , vol.311 , pp. 335-346
    • Lana-Elola, E.1    Rice, R.2    Grigoriadis, A.E.3    Rice, D.P.4
  • 66
    • 57749107632 scopus 로고    scopus 로고
    • The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation
    • Yoon W.J., Cho Y.D., Cho K.H., Woo K.M., Baek J.H., Cho J.Y., et al. The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. J Biol Chem 2008, 283:32751-32761.
    • (2008) J Biol Chem , vol.283 , pp. 32751-32761
    • Yoon, W.J.1    Cho, Y.D.2    Cho, K.H.3    Woo, K.M.4    Baek, J.H.5    Cho, J.Y.6
  • 67
    • 18844362603 scopus 로고    scopus 로고
    • The role of Axin2 in calvarial morphogenesis and craniosynostosis
    • Yu H.M., Jerchow B., Sheu T.J., Liu B., Costantini F., Puzas J.E., et al. The role of Axin2 in calvarial morphogenesis and craniosynostosis. Development 2005, 132:1995-2005.
    • (2005) Development , vol.132 , pp. 1995-2005
    • Yu, H.M.1    Jerchow, B.2    Sheu, T.J.3    Liu, B.4    Costantini, F.5    Puzas, J.E.6
  • 68
    • 0030769180 scopus 로고    scopus 로고
    • Craniosynostosis: genes and mechanisms
    • Wilkie A.O. Craniosynostosis: genes and mechanisms. Hum Mol Genet 1997, 6:1647-1656.
    • (1997) Hum Mol Genet , vol.6 , pp. 1647-1656
    • Wilkie, A.O.1
  • 70
    • 84878832554 scopus 로고    scopus 로고
    • The widely used Wnt1-Cre transgene causes developmental phenotypes by ectopic activation of Wnt signaling
    • Lewis A.E., Vasudevan H.N., O'Neill A.K., Soriano P., Bush J.O. The widely used Wnt1-Cre transgene causes developmental phenotypes by ectopic activation of Wnt signaling. Dev Biol 2013, 379:229-234.
    • (2013) Dev Biol , vol.379 , pp. 229-234
    • Lewis, A.E.1    Vasudevan, H.N.2    O'Neill, A.K.3    Soriano, P.4    Bush, J.O.5
  • 71
    • 0032718124 scopus 로고    scopus 로고
    • Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation
    • DasGupta R., Fuchs E. Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation. Development 1999, 126:4557-4568.
    • (1999) Development , vol.126 , pp. 4557-4568
    • DasGupta, R.1    Fuchs, E.2
  • 72
    • 0037157837 scopus 로고    scopus 로고
    • A developmental conundrum: a stabilized form of beta-catenin lacking the transcriptional activation domain triggers features of hair cell fate in epidermal cells and epidermal cell fate in hair follicle cells
    • DasGupta R., Rhee H., Fuchs E. A developmental conundrum: a stabilized form of beta-catenin lacking the transcriptional activation domain triggers features of hair cell fate in epidermal cells and epidermal cell fate in hair follicle cells. J Cell Biol 2002, 158:331-344.
    • (2002) J Cell Biol , vol.158 , pp. 331-344
    • DasGupta, R.1    Rhee, H.2    Fuchs, E.3
  • 73
    • 10944266528 scopus 로고    scopus 로고
    • Global inhibition of Lef1/Tcf-dependent Wnt signaling at its nuclear end point abrogates development in transgenic Xenopus embryos
    • Deroo T., Denayer T., Van Roy F., Vleminckx K. Global inhibition of Lef1/Tcf-dependent Wnt signaling at its nuclear end point abrogates development in transgenic Xenopus embryos. J Biol Chem 2004, 279:50670-50675.
    • (2004) J Biol Chem , vol.279 , pp. 50670-50675
    • Deroo, T.1    Denayer, T.2    Van Roy, F.3    Vleminckx, K.4
  • 75
    • 0038485600 scopus 로고    scopus 로고
    • Lymphoid enhancer factor-1 and beta-catenin inhibit Runx2-dependent transcriptional activation of the osteocalcin promoter
    • Kahler R.A., Westendorf J.J. Lymphoid enhancer factor-1 and beta-catenin inhibit Runx2-dependent transcriptional activation of the osteocalcin promoter. J Biol Chem 2003, 278:11937-11944.
    • (2003) J Biol Chem , vol.278 , pp. 11937-11944
    • Kahler, R.A.1    Westendorf, J.J.2
  • 76
    • 0035395874 scopus 로고    scopus 로고
    • Tcf3 and Lef1 regulate lineage differentiation of multipotent stem cells in skin
    • Merrill B.J., Gat U., DasGupta R., Fuchs E. Tcf3 and Lef1 regulate lineage differentiation of multipotent stem cells in skin. Genes Dev 2001, 15:1688-1705.
    • (2001) Genes Dev , vol.15 , pp. 1688-1705
    • Merrill, B.J.1    Gat, U.2    DasGupta, R.3    Fuchs, E.4
  • 77
    • 0026331135 scopus 로고
    • Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf
    • Milatovich A., Travis A., Grosschedl R., Francke U. Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf. Genomics 1991, 11:1040-1048.
    • (1991) Genomics , vol.11 , pp. 1040-1048
    • Milatovich, A.1    Travis, A.2    Grosschedl, R.3    Francke, U.4
  • 78
  • 79
    • 0025190642 scopus 로고
    • CNS stem cells express a new class of intermediate filament protein
    • Lendahl U., Zimmerman L.B., McKay R.D. CNS stem cells express a new class of intermediate filament protein. Cell 1990, 60:585-595.
    • (1990) Cell , vol.60 , pp. 585-595
    • Lendahl, U.1    Zimmerman, L.B.2    McKay, R.D.3
  • 80
    • 70449646115 scopus 로고    scopus 로고
    • The dynamic cilium in human diseases
    • D'Angelo A., Franco B. The dynamic cilium in human diseases. Pathogenetics 2009, 2:3.
    • (2009) Pathogenetics , vol.2 , pp. 3
    • D'Angelo, A.1    Franco, B.2
  • 81
    • 84887135056 scopus 로고    scopus 로고
    • Expanding horizons: ciliary proteins reach beyond cilia
    • Yuan S., Sun Z. Expanding horizons: ciliary proteins reach beyond cilia. Annu Rev Genet 2013, 47:353-376.
    • (2013) Annu Rev Genet , vol.47 , pp. 353-376
    • Yuan, S.1    Sun, Z.2
  • 82
    • 84875935957 scopus 로고    scopus 로고
    • Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)
    • Khonsari R.H., Ohazama A., Raouf R., Kawasaki M., Kawasaki K., Porntaveetus T., et al. Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). Hum Mol Genet 2013, 22:1873-1885.
    • (2013) Hum Mol Genet , vol.22 , pp. 1873-1885
    • Khonsari, R.H.1    Ohazama, A.2    Raouf, R.3    Kawasaki, M.4    Kawasaki, K.5    Porntaveetus, T.6
  • 83
    • 77953120200 scopus 로고    scopus 로고
    • Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
    • Walczak-Sztulpa J., Eggenschwiler J., Osborn D., Brown D.A., Emma F., Klingenberg C., et al. Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 2010, 86:949-956.
    • (2010) Am J Hum Genet , vol.86 , pp. 949-956
    • Walczak-Sztulpa, J.1    Eggenschwiler, J.2    Osborn, D.3    Brown, D.A.4    Emma, F.5    Klingenberg, C.6
  • 84
    • 0141593474 scopus 로고    scopus 로고
    • Patterning of the hyoid cartilage depends upon signals arising from the ventral foregut endoderm
    • Ruhin B., Creuzet S., Vincent C., Benouaiche L., Le Douarin N.M., Couly G. Patterning of the hyoid cartilage depends upon signals arising from the ventral foregut endoderm. Dev Dyn 2003, 228:239-246.
    • (2003) Dev Dyn , vol.228 , pp. 239-246
    • Ruhin, B.1    Creuzet, S.2    Vincent, C.3    Benouaiche, L.4    Le Douarin, N.M.5    Couly, G.6
  • 85
    • 0036336298 scopus 로고    scopus 로고
    • Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head
    • Couly G., Creuzet S., Bennaceur S., Vincent C., Le Douarin N.M. Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head. Development 2002, 129:1061-1073.
    • (2002) Development , vol.129 , pp. 1061-1073
    • Couly, G.1    Creuzet, S.2    Bennaceur, S.3    Vincent, C.4    Le Douarin, N.M.5
  • 86
    • 61649116183 scopus 로고    scopus 로고
    • Primary cilia and signaling pathways in mammalian development, health and disease
    • Veland I.R., Awan A., Pedersen L.B., Yoder B.K., Christensen S.T. Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 2009, 111:39-53.
    • (2009) Nephron Physiol , vol.111 , pp. 39-53
    • Veland, I.R.1    Awan, A.2    Pedersen, L.B.3    Yoder, B.K.4    Christensen, S.T.5
  • 87
    • 0037673939 scopus 로고    scopus 로고
    • Cranial skeletal biology
    • Helms J.A., Schneider R.A. Cranial skeletal biology. Nature 2003, 423:326-331.
    • (2003) Nature , vol.423 , pp. 326-331
    • Helms, J.A.1    Schneider, R.A.2
  • 88
    • 33846930620 scopus 로고    scopus 로고
    • Sonic hedgehog in the pharyngeal endoderm controls arch pattern via regulation of Fgf8 in head ectoderm
    • Haworth K.E., Wilson J.M., Grevellec A., Cobourne M.T., Healy C., Helms J.A., et al. Sonic hedgehog in the pharyngeal endoderm controls arch pattern via regulation of Fgf8 in head ectoderm. Dev Biol 2007, 303:244-258.
    • (2007) Dev Biol , vol.303 , pp. 244-258
    • Haworth, K.E.1    Wilson, J.M.2    Grevellec, A.3    Cobourne, M.T.4    Healy, C.5    Helms, J.A.6
  • 89
    • 33745018079 scopus 로고    scopus 로고
    • The molecular origins of species-specific facial pattern
    • Brugmann S.A., Tapadia M.D., Helms J.A. The molecular origins of species-specific facial pattern. Curr Top Dev Biol 2006, 73:1-42.
    • (2006) Curr Top Dev Biol , vol.73 , pp. 1-42
    • Brugmann, S.A.1    Tapadia, M.D.2    Helms, J.A.3
  • 90
    • 79251475596 scopus 로고    scopus 로고
    • Cranial neural crest cells on the move: their roles in craniofacial development
    • Cordero D.R., Brugmann S., Chu Y., Bajpai R., Jame M., Helms J.A. Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A 2011, 155A:270-279.
    • (2011) Am J Med Genet A , vol.155 A , pp. 270-279
    • Cordero, D.R.1    Brugmann, S.2    Chu, Y.3    Bajpai, R.4    Jame, M.5    Helms, J.A.6
  • 91
    • 29644441705 scopus 로고    scopus 로고
    • Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus
    • Banizs B., Pike M.M., Millican C.L., Ferguson W.B., Komlosi P., Sheetz J., et al. Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus. Development 2005, 132:5329-5339.
    • (2005) Development , vol.132 , pp. 5329-5339
    • Banizs, B.1    Pike, M.M.2    Millican, C.L.3    Ferguson, W.B.4    Komlosi, P.5    Sheetz, J.6
  • 92
    • 84872182391 scopus 로고    scopus 로고
    • The assessment of bulging fontanel and splitting of sutures in premature infants: an interrater reliability study by the Hydrocephalus Clinical Research Network
    • Wellons J.C., Holubkov R., Browd S.R., Riva-Cambrin J., Whitehead W., Kestle J., et al. The assessment of bulging fontanel and splitting of sutures in premature infants: an interrater reliability study by the Hydrocephalus Clinical Research Network. J Neurosurg Pediatr 2013, 11:12-14.
    • (2013) J Neurosurg Pediatr , vol.11 , pp. 12-14
    • Wellons, J.C.1    Holubkov, R.2    Browd, S.R.3    Riva-Cambrin, J.4    Whitehead, W.5    Kestle, J.6
  • 93
    • 42649101326 scopus 로고    scopus 로고
    • Impaired meningeal development in association with apical expansion of calvarial bone osteogenesis in the Foxc1 mutant
    • Vivatbutsiri P., Ichinose S., Hytonen M., Sainio K., Eto K., Iseki S. Impaired meningeal development in association with apical expansion of calvarial bone osteogenesis in the Foxc1 mutant. J Anat 2008, 212:603-611.
    • (2008) J Anat , vol.212 , pp. 603-611
    • Vivatbutsiri, P.1    Ichinose, S.2    Hytonen, M.3    Sainio, K.4    Eto, K.5    Iseki, S.6
  • 94
    • 0032749014 scopus 로고    scopus 로고
    • The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
    • Hu D., Helms J.A. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 1999, 126:4873-4884.
    • (1999) Development , vol.126 , pp. 4873-4884
    • Hu, D.1    Helms, J.A.2
  • 95
    • 33750338717 scopus 로고    scopus 로고
    • The Wnt/beta-catenin pathway regulates Gli-mediated Myf5 expression during somitogenesis
    • Borello U., Berarducci B., Murphy P., Bajard L., Buffa V., Piccolo S., et al. The Wnt/beta-catenin pathway regulates Gli-mediated Myf5 expression during somitogenesis. Development 2006, 133:3723-3732.
    • (2006) Development , vol.133 , pp. 3723-3732
    • Borello, U.1    Berarducci, B.2    Murphy, P.3    Bajard, L.4    Buffa, V.5    Piccolo, S.6
  • 96
    • 13444302715 scopus 로고    scopus 로고
    • Sequential roles of Hedgehog and Wnt signaling in osteoblast development
    • Hu H., Hilton M.J., Tu X., Yu K., Ornitz D.M., Long F. Sequential roles of Hedgehog and Wnt signaling in osteoblast development. Development 2005, 132:49-60.
    • (2005) Development , vol.132 , pp. 49-60
    • Hu, H.1    Hilton, M.J.2    Tu, X.3    Yu, K.4    Ornitz, D.M.5    Long, F.6
  • 97
    • 84865856693 scopus 로고    scopus 로고
    • Antagonistic cross-regulation between Wnt and Hedgehog signalling pathways controls post-embryonic retinal proliferation
    • Borday C., Cabochette P., Parain K., Mazurier N., Janssens S., Tran H.T., et al. Antagonistic cross-regulation between Wnt and Hedgehog signalling pathways controls post-embryonic retinal proliferation. Development 2012, 139:3499-3509.
    • (2012) Development , vol.139 , pp. 3499-3509
    • Borday, C.1    Cabochette, P.2    Parain, K.3    Mazurier, N.4    Janssens, S.5    Tran, H.T.6
  • 98
    • 77956564468 scopus 로고    scopus 로고
    • Inhibition of Wnt signaling by Wise (Sostdc1) and negative feedback from Shh controls tooth number and patterning
    • Ahn Y., Sanderson B.W., Klein O.D., Krumlauf R. Inhibition of Wnt signaling by Wise (Sostdc1) and negative feedback from Shh controls tooth number and patterning. Development 2010, 137:3221-3231.
    • (2010) Development , vol.137 , pp. 3221-3231
    • Ahn, Y.1    Sanderson, B.W.2    Klein, O.D.3    Krumlauf, R.4
  • 99
    • 69949120070 scopus 로고    scopus 로고
    • Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo
    • Ocbina P.J., Tuson M., Anderson K.V. Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. PLoS ONE 2009, 4:e6839.
    • (2009) PLoS ONE , vol.4
    • Ocbina, P.J.1    Tuson, M.2    Anderson, K.V.3
  • 100
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
    • Beales P.L., Elcioglu N., Woolf A.S., Parker D., Flinter F.A. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999, 36:437-446.
    • (1999) J Med Genet , vol.36 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 101
    • 19944431708 scopus 로고    scopus 로고
    • Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study
    • Moore S.J., Green J.S., Fan Y., Bhogal A.K., Dicks E., Fernandez B.A., et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 2005, 132:352-360.
    • (2005) Am J Med Genet A , vol.132 , pp. 352-360
    • Moore, S.J.1    Green, J.S.2    Fan, Y.3    Bhogal, A.K.4    Dicks, E.5    Fernandez, B.A.6
  • 103
    • 37249092507 scopus 로고    scopus 로고
    • The face of Joubert syndrome: a study of dysmorphology and anthropometry
    • Braddock S.R., Henley K.M., Maria B.L. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A 2007, 143A:3235-3242.
    • (2007) Am J Med Genet A , vol.143 A , pp. 3235-3242
    • Braddock, S.R.1    Henley, K.M.2    Maria, B.L.3
  • 104
    • 0032851825 scopus 로고    scopus 로고
    • Clinical features and revised diagnostic criteria in Joubert syndrome
    • discussion 590-1
    • Maria B.L., Boltshauser E., Palmer S.C., Tran T.X. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999, 14:583-590. discussion 590-1.
    • (1999) J Child Neurol , vol.14 , pp. 583-590
    • Maria, B.L.1    Boltshauser, E.2    Palmer, S.C.3    Tran, T.X.4
  • 106
    • 0021956991 scopus 로고
    • Brain pathology in the Meckel syndrome: a study of 59 cases
    • Paetau A., Salonen R., Haltia M. Brain pathology in the Meckel syndrome: a study of 59 cases. Clin Neuropathol 1985, 4:56-62.
    • (1985) Clin Neuropathol , vol.4 , pp. 56-62
    • Paetau, A.1    Salonen, R.2    Haltia, M.3
  • 107
    • 0021280772 scopus 로고
    • The Meckel syndrome: clinicopathological findings in 67 patients
    • Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984, 18:671-689.
    • (1984) Am J Med Genet , vol.18 , pp. 671-689
    • Salonen, R.1
  • 108
    • 55349129995 scopus 로고    scopus 로고
    • Oral-facial-digital type ICG. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
    • Prattichizzo C., Macca M., Novelli V., Giorgio G., Barra A., Franco B. Oral-facial-digital type ICG. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat 2008, 29:1237-1246.
    • (2008) Hum Mutat , vol.29 , pp. 1237-1246
    • Prattichizzo, C.1    Macca, M.2    Novelli, V.3    Giorgio, G.4    Barra, A.5    Franco, B.6
  • 109
    • 30744451162 scopus 로고    scopus 로고
    • Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study
    • Thauvin-Robinet C., Cossee M., Cormier-Daire V., Van Maldergem L., Toutain A., Alembik Y., et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 2006, 43:54-61.
    • (2006) J Med Genet , vol.43 , pp. 54-61
    • Thauvin-Robinet, C.1    Cossee, M.2    Cormier-Daire, V.3    Van Maldergem, L.4    Toutain, A.5    Alembik, Y.6
  • 110
    • 0025208291 scopus 로고
    • Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies
    • Meinecke P., Hayek H. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet 1990, 27:200-202.
    • (1990) J Med Genet , vol.27 , pp. 200-202
    • Meinecke, P.1    Hayek, H.2
  • 112
    • 0031472220 scopus 로고    scopus 로고
    • Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
    • Howard T.D., Guttmacher A.E., McKinnon W., Sharma M., McKusick V.A., Jabs E.W. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet 1997, 61:1405-1412.
    • (1997) Am J Hum Genet , vol.61 , pp. 1405-1412
    • Howard, T.D.1    Guttmacher, A.E.2    McKinnon, W.3    Sharma, M.4    McKusick, V.A.5    Jabs, E.W.6
  • 113
    • 77956393882 scopus 로고    scopus 로고
    • Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    • Gilissen C., Arts H.H., Hoischen A., Spruijt L., Mans D.A., Arts P., et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010, 87:418-423.
    • (2010) Am J Hum Genet , vol.87 , pp. 418-423
    • Gilissen, C.1    Arts, H.H.2    Hoischen, A.3    Spruijt, L.4    Mans, D.A.5    Arts, P.6
  • 114
    • 0017327514 scopus 로고
    • A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia
    • Levin L.S., Perrin J.C., Ose L., Dorst J.P., Miller J.D., McKusick V.A. A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr 1977, 90:55-61.
    • (1977) J Pediatr , vol.90 , pp. 55-61
    • Levin, L.S.1    Perrin, J.C.2    Ose, L.3    Dorst, J.P.4    Miller, J.D.5    McKusick, V.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.