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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: 1984
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049293/
https://ncbi.nlm.nih.gov/pubmed/6492090
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