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Volumn 98, Issue 8, 2013, Pages 3095-3103

New genes in bone development: What's new in osteogenesis imperfecta

Author keywords

[No Author keywords available]

Indexed keywords

CARTILAGE ASSOCIATED PROTEIN; CELL PROTEIN; CHAPERONE; COLLAGEN TYPE 1; COLLAGEN TYPE 3; HEAT SHOCK PROTEIN 47; PIGMENT EPITHELIUM DERIVED FACTOR; PROCOLLAGEN; PROCOLLAGEN C PROTEINASE; PROLINE; UNCLASSIFIED DRUG;

EID: 84881524407     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1505     Document Type: Article
Times cited : (153)

References (47)
  • 1
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101-116.
    • (1979) J Med Genet. , vol.16 , Issue.2 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 2
    • 0033848677 scopus 로고    scopus 로고
    • Type v osteogenesis imperfecta: A new form of brittle bone disease
    • Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000; 15(9):1650-1658.
    • (2000) J Bone Miner Res. , vol.15 , Issue.9 , pp. 1650-1658
    • Glorieux, F.H.1    Rauch, F.2    Plotkin, H.3
  • 3
    • 0036133709 scopus 로고    scopus 로고
    • Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect
    • Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 2002;17(1):30-38.
    • (2002) J Bone Miner Res. , vol.17 , Issue.1 , pp. 30-38
    • Glorieux, F.H.1    Ward, L.M.2    Rauch, F.3    Lalic, L.4    Roughley, P.J.5    Travers, R.6
  • 4
    • 34347160102 scopus 로고
    • Blaue Scleren Knochenbrüchigkeit und Schwerhörigkeit
    • Van der Hoeve J, de Kleyn A. Blaue Scleren, Knochenbrüchigkeit und Schwerhörigkeit. Arch Ophthalmol. 1918;95:81-93.
    • (1918) Arch Ophthalmol. , vol.95 , pp. 81-93
    • Van Der Hoeve, J.1    De Kleyn, A.2
  • 5
    • 55849131441 scopus 로고    scopus 로고
    • Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation
    • Obafemi AA, Bulas DI, Troendle J, Marini JC. Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation. Am J Med Genet A. 2008;146A(21):2725-2732.
    • (2008) Am J Med Genet A. , vol.146 A , Issue.21 , pp. 2725-2732
    • Obafemi, A.A.1    Bulas, D.I.2    Troendle, J.3    Marini, J.C.4
  • 7
    • 33847227672 scopus 로고    scopus 로고
    • Consortium for osteogenesis imperfecta mutations in the helical domain of type i collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    • Marini JC, Forlino A, CabralWA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28(3):209-221.
    • (2007) Hum Mutat. , vol.28 , Issue.3 , pp. 209-221
    • Marini, J.C.1    Cabralwa, F.A.2
  • 8
    • 21444439013 scopus 로고    scopus 로고
    • Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/ Ehlers-Danlos syndrome by interference with N-propeptide processing
    • CabralWA, Makareeva E, Colige A, et al. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/ Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem. 2005;280(19):19259-19269.
    • (2005) J Biol Chem. , vol.280 , Issue.19 , pp. 19259-19269
    • Cabral, W.A.1    Makareeva, E.2    Colige, A.3
  • 9
    • 33646593224 scopus 로고    scopus 로고
    • Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: Unfolding of an N-anchor domain at the N-terminal end of the type i collagen triple helix
    • Makareeva E, Cabral WA, Marini JC, Leikin S. Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. J Biol Chem. 2006;281(10):6463-6470.
    • (2006) J Biol Chem. , vol.281 , Issue.10 , pp. 6463-6470
    • Makareeva, E.1    Cabral, W.A.2    Marini, J.C.3    Leikin, S.4
  • 10
    • 79957625666 scopus 로고    scopus 로고
    • COL1C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta
    • Lindahl K, Barnes AM, Fratzl-Zelman N, et al.COL1C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat. 2011;32(6):598-609.
    • (2011) Hum Mutat. , vol.32 , Issue.6 , pp. 598-609
    • Lindahl, K.1    Barnes, A.M.2    Fratzl-Zelman, N.3
  • 11
    • 34548086505 scopus 로고    scopus 로고
    • Natural history of hyperplastic callus formation in osteogenesis imperfecta type v
    • Cheung MS, Glorieux FH, Rauch F. Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. J Bone Miner Res. 2007;22(8):1181-1186.
    • (2007) J Bone Miner Res. , vol.22 , Issue.8 , pp. 1181-1186
    • Cheung, M.S.1    Glorieux, F.H.2    Rauch, F.3
  • 13
    • 84864946186 scopus 로고    scopus 로고
    • A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type v
    • Cho TJ, Lee KE, Lee SK, et al. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012;91(2):343-348.
    • (2012) Am J Hum Genet. , vol.91 , Issue.2 , pp. 343-348
    • Cho, T.J.1    Lee, K.E.2    Lee, S.K.3
  • 14
    • 84864927716 scopus 로고    scopus 로고
    • A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type v with hyperplastic callus
    • Semler O, Garbes L, Keupp K, et al. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012;91(2):349-357.
    • (2012) Am J Hum Genet. , vol.91 , Issue.2 , pp. 349-357
    • Semler, O.1    Garbes, L.2    Keupp, K.3
  • 15
    • 79960023285 scopus 로고    scopus 로고
    • Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice
    • Hanagata N, Li X, Morita H, Takemura T, Li J, Minowa T. Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice. J Bone Miner Metab. 2011;29(3):279-290.
    • (2011) J Bone Miner Metab. , vol.29 , Issue.3 , pp. 279-290
    • Hanagata, N.1    Li, X.2    Morita, H.3    Takemura, T.4    Li, J.5    Minowa, T.6
  • 16
    • 50249126584 scopus 로고    scopus 로고
    • Bril: A novel bone-specific modulator of mineralization
    • Moffatt P, Gaumond MH, Salois P, et al. Bril: a novel bone-specific modulator of mineralization. J Bone Miner Res. 2008;23(9):1497-1508.
    • (2008) J Bone Miner Res. , vol.23 , Issue.9 , pp. 1497-1508
    • Moffatt, P.1    Gaumond, M.H.2    Salois, P.3
  • 17
    • 79952489518 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
    • Becker J, Semler O, Gilissen C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011;88(3):362-371.
    • (2011) Am J Hum Genet. , vol.88 , Issue.3 , pp. 362-371
    • Becker, J.1    Semler, O.2    Gilissen, C.3
  • 18
    • 84864818079 scopus 로고    scopus 로고
    • Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI
    • Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P. Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. J Clin Endocrinol Metab. 2012;97(8): E1550-E1556.
    • (2012) J Clin Endocrinol Metab. , vol.97 , Issue.8
    • Rauch, F.1    Husseini, A.2    Roughley, P.3    Glorieux, F.H.4    Moffatt, P.5
  • 19
    • 0037465705 scopus 로고    scopus 로고
    • Dual-site recognition of different extracellular matrix components by anti-angiogenic/neurotrophic serpin, PEDF
    • Yasui N, Mori T, Morito D, et al. Dual-site recognition of different extracellular matrix components by anti-angiogenic/neurotrophic serpin, PEDF. Biochemistry. 2003;42(11):3160-3167.
    • (2003) Biochemistry. , vol.42 , Issue.11 , pp. 3160-3167
    • Yasui, N.1    Mori, T.2    Morito, D.3
  • 20
    • 23944468522 scopus 로고    scopus 로고
    • Involvement of the collagen I-binding motif in the anti-angiogenic activity of pigment epithelium-derived factor
    • Hosomichi J, Yasui N, Koide T, Soma K, Morita I. Involvement of the collagen I-binding motif in the anti-angiogenic activity of pigment epithelium-derived factor. Biochem Biophys Res Commun. 2005;335(3):756-761.
    • (2005) Biochem Biophys Res Commun. , vol.335 , Issue.3 , pp. 756-761
    • Hosomichi, J.1    Yasui, N.2    Koide, T.3    Soma, K.4    Morita, I.5
  • 21
    • 1542616911 scopus 로고    scopus 로고
    • Osteoblasts and osteoclasts express PEDF, VEGF-A isoforms, and VEGF receptors: Possible mediators of angiogenesis and matrix remodeling in the bone
    • Tombran-Tink J, Barnstable CJ. Osteoblasts and osteoclasts express PEDF, VEGF-A isoforms, and VEGF receptors: possible mediators of angiogenesis and matrix remodeling in the bone. Biochem Biophys Res Commun. 2004;316(2):573-579.
    • (2004) Biochem Biophys Res Commun. , vol.316 , Issue.2 , pp. 573-579
    • Tombran-Tink, J.1    Barnstable, C.J.2
  • 22
    • 0038240367 scopus 로고    scopus 로고
    • Pigment epithelium-derived factor regulates the vasculature and mass of the prostate and pancreas
    • Doll JA, Stellmach VM, Bouck NP, et al. Pigment epithelium-derived factor regulates the vasculature and mass of the prostate and pancreas. Nat Med. 2003;9(6):774-780.
    • (2003) Nat Med. , vol.9 , Issue.6 , pp. 774-780
    • Doll, J.A.1    Stellmach, V.M.2    Bouck, N.P.3
  • 23
    • 33750207868 scopus 로고    scopus 로고
    • CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta
    • Morello R, Bertin TK, Chen Y, et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006;127(2):291-304.
    • (2006) Cell. , vol.127 , Issue.2 , pp. 291-304
    • Morello, R.1    Bertin, T.K.2    Chen, Y.3
  • 24
    • 77949442552 scopus 로고    scopus 로고
    • Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex
    • Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet. 2010;19(2):223-234.
    • (2010) Hum Mol Genet. , vol.19 , Issue.2 , pp. 223-234
    • Chang, W.1    Barnes, A.M.2    Cabral, W.A.3    Bodurtha, J.N.4    Marini, J.C.5
  • 25
    • 72449183578 scopus 로고    scopus 로고
    • Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
    • Marini JC, Cabral WA, Barnes AM. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res. 2010;339(1):59-70.
    • (2010) Cell Tissue Res. , vol.339 , Issue.1 , pp. 59-70
    • Marini, J.C.1    Cabral, W.A.2    Barnes, A.M.3
  • 26
    • 76649130557 scopus 로고    scopus 로고
    • Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding
    • Barnes AM, Carter EM, Cabral WA, et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.NEngl JMed. 2010;362(6):521-528.
    • (2010) NEngl JMed. , vol.362 , Issue.6 , pp. 521-528
    • Barnes, A.M.1    Carter, E.M.2    Cabral, W.A.3
  • 27
    • 0036317297 scopus 로고    scopus 로고
    • Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease
    • Ward LM, Rauch F, Travers R, et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2002; 31(1):12-18.
    • (2002) Bone. , vol.31 , Issue.1 , pp. 12-18
    • Ward, L.M.1    Rauch, F.2    Travers, R.3
  • 28
    • 33845866114 scopus 로고    scopus 로고
    • Deficiency of cartilageassociated protein in recessive lethal osteogenesis imperfecta
    • Barnes AM, Chang W, Morello R, et al. Deficiency of cartilageassociated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006;355(26):2757-2764.
    • (2006) N Engl J Med. , vol.355 , Issue.26 , pp. 2757-2764
    • Barnes, A.M.1    Chang, W.2    Morello, R.3
  • 29
    • 34548240257 scopus 로고    scopus 로고
    • Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development
    • Marini JC, Cabral WA, Barnes AM, Chang W. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle. 2007;6(14):1675-1681.
    • (2007) Cell Cycle. , vol.6 , Issue.14 , pp. 1675-1681
    • Marini, J.C.1    Cabral, W.A.2    Barnes, A.M.3    Chang, W.4
  • 30
    • 33847321022 scopus 로고    scopus 로고
    • Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
    • Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007;39(3):359-365.
    • (2007) Nat Genet. , vol.39 , Issue.3 , pp. 359-365
    • Cabral, W.A.1    Chang, W.2    Barnes, A.M.3
  • 31
    • 84861893483 scopus 로고    scopus 로고
    • A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta
    • Cabral WA, Barnes AM, Adeyemo A, et al. A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med. 2012;14(5):543-551.
    • (2012) Genet Med. , vol.14 , Issue.5 , pp. 543-551
    • Cabral, W.A.1    Barnes, A.M.2    Adeyemo, A.3
  • 32
    • 70350506376 scopus 로고    scopus 로고
    • PPIB mutations cause severe osteogenesis imperfecta
    • van Dijk FS, Nesbitt IM, Zwikstra EH, et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 2009;85(4):521-527.
    • (2009) Am J Hum Genet. , vol.85 , Issue.4 , pp. 521-527
    • Van Dijk, F.S.1    Nesbitt, I.M.2    Zwikstra, E.H.3
  • 33
    • 68249130696 scopus 로고    scopus 로고
    • A missense mutation in the SERPINH1 gene in dachshunds with osteogenesis imperfecta
    • Drögemüller C, Becker D, Brunner A, et al. A missense mutation in the SERPINH1 gene in dachshunds with osteogenesis imperfecta. PLoS Genet. 2009;5(7):e1000579.
    • (2009) PLoS Genet. , vol.5 , Issue.7
    • Drögemüller, C.1    Becker, D.2    Brunner, A.3
  • 34
    • 77949262259 scopus 로고    scopus 로고
    • Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
    • Christiansen HE, Schwarze U, Pyott SM, et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet. 2010;86(3):389-398.
    • (2010) Am J Hum Genet. , vol.86 , Issue.3 , pp. 389-398
    • Christiansen, H.E.1    Schwarze, U.2    Pyott, S.M.3
  • 35
    • 77950381244 scopus 로고    scopus 로고
    • Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
    • Alanay Y, Avaygan H, Camacho N, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010;86(4):551-559.
    • (2010) Am J Hum Genet. , vol.86 , Issue.4 , pp. 551-559
    • Alanay, Y.1    Avaygan, H.2    Camacho, N.3
  • 36
    • 79951842354 scopus 로고    scopus 로고
    • Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
    • Kelley BP, Malfait F, Bonafe L, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26(3):666-672.
    • (2011) J Bone Miner Res. , vol.26 , Issue.3 , pp. 666-672
    • Kelley, B.P.1    Malfait, F.2    Bonafe, L.3
  • 37
    • 84881616173 scopus 로고    scopus 로고
    • Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations
    • [published online July 8, 2013] doi:10.1002/humu.22362
    • Barnes AM, Duncan G, Weis M, et al. Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations [published online July 8, 2013]. Hum Mutat. doi:10.1002/humu.22362.
    • Hum Mutat.
    • Barnes, A.M.1    Duncan, G.2    Weis, M.3
  • 38
    • 84867455169 scopus 로고    scopus 로고
    • Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix
    • Barnes AM, Cabral WA, Weis M, et al. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. Hum Mutat. 2012;33(11):1589-1598.
    • (2012) Hum Mutat. , vol.33 , Issue.11 , pp. 1589-1598
    • Barnes, A.M.1    Cabral, W.A.2    Weis, M.3
  • 39
    • 84871243967 scopus 로고    scopus 로고
    • Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
    • Schwarze U, Cundy T, Pyott SM, et al. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013;22(1):1-17.
    • (2013) Hum Mol Genet. , vol.22 , Issue.1 , pp. 1-17
    • Schwarze, U.1    Cundy, T.2    Pyott, S.M.3
  • 40
    • 84857790992 scopus 로고    scopus 로고
    • Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
    • Martínez-Glez V, Valencia M, Caparrós-Martín JA, et al. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat. 2012;33(2):343-350.
    • (2012) Hum Mutat. , vol.33 , Issue.2 , pp. 343-350
    • Martínez-Glez, V.1    Valencia, M.2    Caparrós-Martín, J.A.3
  • 41
    • 84859506560 scopus 로고    scopus 로고
    • Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
    • Asharani PV, Keupp K, Semler O, et al. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet. 2012;90(4):661-674.
    • (2012) Am J Hum Genet. , vol.90 , Issue.4 , pp. 661-674
    • Asharani, P.V.1    Keupp, K.2    Semler, O.3
  • 42
    • 77955084141 scopus 로고    scopus 로고
    • Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta
    • Lapunzina P, Aglan M, Temtamy S, et al. Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010;87(1):110-114.
    • (2010) Am J Hum Genet. , vol.87 , Issue.1 , pp. 110-114
    • Lapunzina, P.1    Aglan, M.2    Temtamy, S.3
  • 43
    • 84870467220 scopus 로고    scopus 로고
    • Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
    • Shaheen R, Alazami AM, Alshammari MJ, et al. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet. 2012;49(10):630-635.
    • (2012) J Med Genet. , vol.49 , Issue.10 , pp. 630-635
    • Shaheen, R.1    Alazami, A.M.2    Alshammari, M.J.3
  • 44
    • 84875508421 scopus 로고    scopus 로고
    • A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta
    • Volodarsky M, Markus B, Cohen I, et al. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat. 2013;34(4):582-586.
    • (2013) Hum Mutat. , vol.34 , Issue.4 , pp. 582-586
    • Volodarsky, M.1    Markus, B.2    Cohen, I.3
  • 45
    • 84875924767 scopus 로고    scopus 로고
    • Mutations in WNT1 cause different forms of bone fragility
    • Keupp K, Beleggia F, Kayserili H, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013;92(4): 565-574.
    • (2013) Am J Hum Genet. , vol.92 , Issue.4 , pp. 565-574
    • Keupp, K.1    Beleggia, F.2    Kayserili, H.3
  • 47
    • 84875931013 scopus 로고    scopus 로고
    • WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta
    • Pyott SM, Tran TT, Leistritz DF, et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet. 2013;92(4):590-597.
    • (2013) Am J Hum Genet. , vol.92 , Issue.4 , pp. 590-597
    • Pyott, S.M.1    Tran, T.T.2    Leistritz, D.F.3


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