The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain whic...

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Detalhes bibliográficos
Main Authors: Nicholls, A C, Osse, G, Schloon, H G, Lenard, H G, Deak, S, Myers, J C, Prockop, D J, Weigel, W R, Fryer, P, Pope, F M
Formato: Artigo
Idioma:Inglês
Publicado em: 1984
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049293/
https://ncbi.nlm.nih.gov/pubmed/6492090
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