PMID: 8950681Nov 1, 1996Paper

Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen

Journal of Medical Genetics
W G ColeJ F Bateman

Abstract

The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structural failure of the bone resulted in the disruption of growth plates, progressive bone deformities, and severe growth retardation.

References

Apr 1, 1979·Journal of Medical Genetics·D O SillenceD M Danks
Jul 1, 1991·Journal of Medical Genetics·P H ByersM C Willing
Mar 1, 1986·American Journal of Medical Genetics·D O SillenceD L Rimoin
Aug 1, 1980·Radiology·A B GoldmanP G Bullough
Aug 1, 1994·Matrix Biology : Journal of the International Society for Matrix Biology·W TraubS Weiner
Aug 1, 1993·Human Molecular Genetics·R SztrolovicsP J Roughley

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