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Volumn 6, Issue 4, 1997, Pages 329-336

Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) - Evidence for possible autosomal recessive inheritance

Author keywords

Arthrogryposis; Autosomal recessive; Bruck syndrome; Osteogenesis imperfecta; Pterygia

Indexed keywords

COLLAGEN TYPE 1;

EID: 0030861559     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199710000-00005     Document Type: Article
Times cited : (22)

References (16)
  • 3
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    • Beighton, P.1    Versfeld, G.2
  • 4
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    • Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures
    • Brenner RE, Vetter U, Stoss H, Muller PK, Teller WM (1993): Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures. Eu J Pediatr 152: 505-508.
    • (1993) Eu J Pediatr , vol.152 , pp. 505-508
    • Brenner, R.E.1    Vetter, U.2    Stoss, H.3    Muller, P.K.4    Teller, W.M.5
  • 5
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    • Ueber eine seltene Form von Erkrankung der Knochen und Gelenke
    • Bruck A (1897): Ueber eine seltene Form von Erkrankung der Knochen und Gelenke. Dtsch Med Wochenschr 23: 152-155.
    • (1897) Dtsch Med Wochenschr , vol.23 , pp. 152-155
    • Bruck, A.1
  • 6
    • 0025777221 scopus 로고
    • Osteogenesis imperfecta: Translation of mutation to phenotype
    • Byers PH, Wallis GA, Willing MC (1991): Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 28: 433-442.
    • (1991) J Med Genet , vol.28 , pp. 433-442
    • Byers, P.H.1    Wallis, G.A.2    Willing, M.C.3
  • 9
    • 84964151096 scopus 로고
    • Arthrogryposis multiplex congenita
    • Mackenzie DY (1959): Arthrogryposis multiplex congenita. Proc Roy Soc Med 52: 1101-1105.
    • (1959) Proc Roy Soc Med , vol.52 , pp. 1101-1105
    • Mackenzie, D.Y.1
  • 10
    • 9844261194 scopus 로고
    • Arthrogryposis multiplex congenita with osteogenesis imperfecta
    • Manchanda SS (1960): Arthrogryposis multiplex congenita with osteogenesis imperfecta. Indian J Child Health 8: 377-380.
    • (1960) Indian J Child Health , vol.8 , pp. 377-380
    • Manchanda, S.S.1
  • 11
    • 0030939546 scopus 로고    scopus 로고
    • Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): Review and report on the first North American case
    • McPherson E, Clemens M (1997): Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): Review and report on the first North American case. Am J Med Genet 70: 28-31.
    • (1997) Am J Med Genet , vol.70 , pp. 28-31
    • McPherson, E.1    Clemens, M.2
  • 13
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    • Osteogenesis imperfecta with arthrogryposis multiplex congenita
    • Sharma NL, Anand JS (1964): Osteogenesis imperfecta with arthrogryposis multiplex congenita. J Indian M A 43: 124-126.
    • (1964) J Indian M A , vol.43 , pp. 124-126
    • Sharma, N.L.1    Anand, J.S.2
  • 14
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    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM (1979): Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101-116.
    • (1979) J Med Genet , vol.16 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 15
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    • Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)
    • Viljoen D, Versfeld G, Beighton P (1989): Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Clin Genet 36: 122-126.
    • (1989) Clin Genet , vol.36 , pp. 122-126
    • Viljoen, D.1    Versfeld, G.2    Beighton, P.3
  • 16
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    • Osteogenesis imperfecta type III: Mutations in the type I collagen structural genes, COL1AI and COL1A2, are not necessarily responsible
    • Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P (1993): Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1AI and COL1A2, are not necessarily responsible. J Med Genet 30: 492-496.
    • (1993) J Med Genet , vol.30 , pp. 492-496
    • Wallis, G.A.1    Sykes, B.2    Byers, P.H.3    Mathew, C.G.4    Viljoen, D.5    Beighton, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.