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Clinical and molecular genetics of Stickler syndrome

Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a su...

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Detalhes bibliográficos
Main Authors: Snead, M., Yates, J.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734362/
https://ncbi.nlm.nih.gov/pubmed/10353778
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