A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features

PURPOSE: To detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene. METHODS: Sixteen family members with ten affected individuals underwent detailed ophthalmic evaluation. Genetic linkage anal...

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Main Authors: Brézin, Antoine P., Nedelec, Brigitte, Barjol, Amandine, Rothschild, Pierre-Raphael, Delpech, Marc, Valleix, Sophie
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3130719/
https://ncbi.nlm.nih.gov/pubmed/21738396
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