نتایج جستجو برای: familial exudative vitreoretionopathy

تعداد نتایج: 58744  

2011
Antoine P. Brézin Brigitte Nedelec Amandine Barjol Pierre-Raphael Rothschild Marc Delpech Sophie Valleix

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 analysis and gene screening were undertaken for genes known to be involved in degenerative and exudat...

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