Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

We report a family in which dominant osteogenesis imperfecta segregates with a COL1A2 haplotype and is associated with a structural defect in the helical region of the type I procollagen molecule. All affected subjects had short stature, dentinogenesis imperfecta, and myopia; however, great differen...

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Bibliografiske detaljer
Main Authors: Superti-Furga, A, Pistone, F, Romano, C, Steinmann, B
Format: Artigo
Sprog:Inglês
Udgivet: 1989
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015618/
https://ncbi.nlm.nih.gov/pubmed/2567784
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