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Volumn 149, Issue 9, 2009, Pages 1916-1921

Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients

Author keywords

Anthropometry; Congenital ectodermal defect; Craniofacial abnormalities; Ectodermal dysplasia; Genetic heterogeneity; Medical genetics; Phenotype; TP63; TP63 protein

Indexed keywords

ADOLESCENT; ADULT; AEC SYNDROME; ANTHROPOMETRY; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; FEMALE; HEAD CIRCUMFERENCE; HUMAN; HYPOSPADIAS; INFANT; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; TRISMUS; WEIGHT GAIN;

EID: 69249095040     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32791     Document Type: Article
Times cited : (27)

References (36)
  • 3
    • 0037108134 scopus 로고    scopus 로고
    • P63 gene mutations and human developmental syndromes
    • Brunner HG, Hamel BC, van Bokhoven H. 2002a. P63 gene mutations and human developmental syndromes. Am J Med Genet 112:284-290.
    • (2002) Am J Med Genet , vol.112 , pp. 284-290
    • Brunner, H.G.1    Hamel, B.C.2    Van Bokhoven, H.3
  • 7
    • 69249089771 scopus 로고    scopus 로고
    • Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
    • in press
    • Cole P, Kaufman Y, Bree A, Friedman E, Sindwani R, Hatef D, Hollier L. 2009. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet Part A (in press).
    • (2009) Am J Med Genet Part A
    • Cole, P.1    Kaufman, Y.2    Bree, A.3    Friedman, E.4    Sindwani, R.5    Hatef, D.6    Hollier, L.7
  • 8
    • 0024581369 scopus 로고
    • Rapp-Hodgkin syndrome: An ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature
    • Crawford PJ, Aldred MJ, Clarke A, Tso MS. 1989. Rapp-Hodgkin syndrome: An ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature. Oral Surg Oral Med Oral Pathol 67:50-62.
    • (1989) Oral Surg Oral Med Oral Pathol , vol.67 , pp. 50-62
    • Crawford, P.J.1    Aldred, M.J.2    Clarke, A.3    Tso, M.S.4
  • 9
    • 69249150919 scopus 로고    scopus 로고
    • Pathologic features of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
    • in press
    • Dishop M, Bree A, Hicks M. 2009. Pathologic features of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet Part A (in press).
    • (2009) Am J Med Genet Part A
    • Dishop, M.1    Bree, A.2    Hicks, M.3
  • 10
    • 69249130534 scopus 로고    scopus 로고
    • Oral findings in akyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome
    • in press
    • Farrington F, Lausten L. 2009. Oral findings in akyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Am J Med Genet Part A (in press).
    • (2009) Am J Med Genet Part A
    • Farrington, F.1    Lausten, L.2
  • 13
    • 0023202753 scopus 로고
    • Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
    • Greene SL, Michels VV, Doyle JA. 1987. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Am J Med Genet 27:207-212.
    • (1987) Am J Med Genet , vol.27 , pp. 207-212
    • Greene, S.L.1    Michels, V.V.2    Doyle, J.A.3
  • 14
    • 0017118874 scopus 로고
    • The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition
    • Hay RJ, Wells RS. 1976. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition. Br J Dermatol 94:277-289.
    • (1976) Br J Dermatol , vol.94 , pp. 277-289
    • Hay, R.J.1    Wells, R.S.2
  • 15
    • 26444507855 scopus 로고    scopus 로고
    • AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of notch signaling
    • Huang YP, Kim Y, Li Z, Fomenkov T, Fomenkov A, Ratovitski EA. 2005. AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling. Cell Cycle 4:1440-1447. (Pubitemid 41437136)
    • (2005) Cell Cycle , vol.4 , Issue.10 , pp. 1440-1447
    • Huang, Y.-P.1    Kim, Y.2    Li, Z.3    Fomenkov, T.4    Fomenkov, A.5    Ratovitski, E.A.6
  • 16
    • 69249126244 scopus 로고    scopus 로고
    • Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
    • in press
    • Julapalli M, Scher R, Sybert V, Siegfried E, Bree A. 2009. Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet Part A (in press).
    • (2009) Am J Med Genet Part A
    • Julapalli, M.1    Scher, R.2    Sybert, V.3    Siegfried, E.4    Bree, A.5
  • 17
    • 0037493688 scopus 로고    scopus 로고
    • Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia
    • Kantaputra PN, Hamada T, Kumchai T, McGrath JA. 2003. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res 82:433-437. (Pubitemid 41766007)
    • (2003) Journal of Dental Research , vol.82 , Issue.6 , pp. 433-437
    • Kantoputra, P.N.1    Hamada, T.2    Kumchai, T.3    McGrath, J.A.4
  • 18
    • 0942301281 scopus 로고    scopus 로고
    • P63 is the molecular switch for initiation of an epithelial stratification program
    • DOI 10.1101/gad.1165104
    • Koster MI, Kim S, Mills AA, DeMayo FJ, Roop DR. 2004. p63 is the molecular switch for initiation of an epithelial stratification program. Genes Dev 18:126-131. (Pubitemid 38141780)
    • (2004) Genes and Development , vol.18 , Issue.2 , pp. 126-131
    • Koster, M.I.1    Kim, S.2    Mills, A.A.3    Demayo, F.J.4    Roop, D.R.5
  • 21
    • 69249153487 scopus 로고    scopus 로고
    • Growth, nutritional, and gastrointestional features of ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) syndrome
    • in press
    • Motil K, Fete T. 2009. Growth, nutritional, and gastrointestional features of ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) syndrome. Am J Med Genet Part A (in press).
    • (2009) Am J Med Genet Part A
    • Motil, K.1    Fete, T.2
  • 23
    • 0014390715 scopus 로고
    • Anhidrotic ectodermal dysplasia: Autosomal dominant inheritance with palate and lip anomalies
    • Rapp RS, Hodgkin WE. 1968. Anhidrotic ectodermal dysplasia: Autosomal dominant inheritance with palate and lip anomalies. J Med Genet 5:269-272.
    • (1968) J Med Genet , vol.5 , pp. 269-272
    • Rapp, R.S.1    Hodgkin, W.E.2
  • 25
    • 69249135920 scopus 로고    scopus 로고
    • Spectrum of p63 mutations in a selected cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome)
    • in press
    • Rinne T, Bolat E, Meijer R, Scheffer H, van Bokhoven H. 2009. Spectrum of p63 mutations in a selected cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome). Am J Med Genet Part A (in press).
    • (2009) Am J Med Genet Part A
    • Rinne, T.1    Bolat, E.2    Meijer, R.3    Scheffer, H.4    Van Bokhoven, H.5
  • 26
    • 0030144787 scopus 로고    scopus 로고
    • Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: Rapp-hodgkin or AEC syndrome
    • Rowan DM. 1996. Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: Rapp-hodgkin or AEC syndrome. Australas J Dermatol 37:102-103.
    • (1996) Australas J Dermatol , vol.37 , pp. 102-103
    • Rowan, D.M.1
  • 27
    • 15044358269 scopus 로고    scopus 로고
    • De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
    • DOI 10.1111/j.1365-2230.2005.01722.x
    • Shotelersuk V, Janklat S, Siriwan P, Tongkobpetch S. 2005. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. Clin Exp Dermatol 30:282-285. (Pubitemid 40547704)
    • (2005) Clinical and Experimental Dermatology , vol.30 , Issue.3 , pp. 282-285
    • Shotelersuk, V.1    Janklat, S.2    Siriwan, P.3    Tongkobpetch, S.4
  • 28
    • 0032771021 scopus 로고    scopus 로고
    • P53 family members p63 and p73 are SAM domain-containing proteins
    • Thanos CD, Bowie JU. 1999. p53 family members p63 and p73 are SAM domain-containing proteins. Protein Sci 8:1708-1710.
    • (1999) Protein Sci , vol.8 , pp. 1708-1710
    • Thanos, C.D.1    Bowie, J.U.2
  • 29
    • 0033524982 scopus 로고    scopus 로고
    • Oligomeric structure of the human EphBZ receptor SAM domain
    • Thanos CD, Goodwill KE, Bowie JU. 1999. Oligomeric structure of the human EphB2 receptor SAM domain. Science 283:833-836. (Pubitemid 129501120)
    • (1999) Science , vol.283 , Issue.5403 , pp. 833-836
    • Thanos, C.D.1    Goodwill, K.E.2    Bowie, J.U.3
  • 30
    • 0028232526 scopus 로고
    • PILI TORTI et CANALICULI BEI EKTODERMALER DYSPLASIE
    • DOI 10.1007/s001050050086
    • Trueb RM, Spycher MA, Schumacher F, Burg G. 1994. Pili torti et canaliculi in ectodermal dysplasia. Hautarzt 45:372-377. (Pubitemid 24223112)
    • (1994) Hautarzt , vol.45 , Issue.6 , pp. 372-377
    • Trueb, R.M.1    Spycher, M.A.2    Schumacher, F.3    Burg, G.4
  • 31
    • 0042413492 scopus 로고    scopus 로고
    • A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon
    • DOI 10.1046/j.1365-2133.2003.05423.x
    • Tsutsui K, Asai Y, Fujimoto A, Yamamoto M, Kubo M, Hatta N. 2003. A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. Br J Dermatol 149:395-399. (Pubitemid 37100269)
    • (2003) British Journal of Dermatology , vol.149 , Issue.2 , pp. 395-399
    • Tsutsui, K.1    Asai, Y.2    Fujimoto, A.3    Yamamoto, M.4    Kubo, M.5    Hatta, N.6
  • 33
  • 35
    • 0043195895 scopus 로고    scopus 로고
    • ABase - A tool for the rapid assessment of anthropometric measurements on handheld computers
    • Zankl A, Molinari L. 2003. A Base-a tool for the rapid assessment of anthropometric measurements on handheld computers. Am J Med Genet Part A 121A:146-150. (Pubitemid 37075520)
    • (2003) American Journal of Medical Genetics , vol.121 A , Issue.2 , pp. 146-150
    • Zankl, A.1    Molinari, L.2
  • 36
    • 0036707794 scopus 로고    scopus 로고
    • Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years
    • DOI 10.1002/ajmg.10472
    • Zankl A, Eberle L, Molinari L, Schinzel A. 2002. Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. Am J Med Genet 111:388-391. (Pubitemid 34894626)
    • (2002) American Journal of Medical Genetics , vol.111 , Issue.4 , pp. 388-391
    • Zankl, A.1    Eberle, L.2    Molinari, L.3    Schinzel, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.