Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

AIMS: To describe genetic and clinical findings in a French family affected by best vitelliform macular dystrophy (BVMD). METHODS: We screened eight at-risk members of a family, including a BVMD-affected proband, by direct sequencing of 11 bestrophin-1 (BEST1) exons. Individuals underwent ophthalmic...

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Detalles Bibliográficos
Autores principales: Lacassagne, Emmanuelle, Dhuez, Aurore, Rigaudière, Florence, Dansault, Anouk, Vêtu, Christelle, Bigot, Karine, Vieira, Véronique, Puech, Bernard, Defoort-Dhellemmes, Sabine, Abitbol, Marc
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032275/
https://www.ncbi.nlm.nih.gov/pubmed/21293734

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