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PubMed · 3078778

Osteogenesis imperfecta.

R Smith
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Abstract

It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the alpha chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met. Future research in this disease therefore needs to be clinical as well as biochemical.

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CollagenGenetic CounselingHumansOsteogenesis ImperfectaPrenatal DiagnosisPrognosisRadiographyJournal ArticleReview

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R Smith. 1986. Osteogenesis imperfecta.. https://pubmed.ncbi.nlm.nih.gov/3078778/

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