Article
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
Molecular vision - 31 Aug 2007
Yzer Suzanne, van den Born L Ingeborgh, Zonneveld Marijke N, Lopez Irma, Ayyagari Radha, Teye-Botchway Leonard, Mota-Vieira Luisa, Cremers Frans P M, Koenekoop Robert K
Abstract excerpt
PURPOSE: To identify the causative gene mutations in three siblings with severe progressive autosomal recessive cone-rod dystrophy (arCRD) and their fifth paternal cousin with Stargardt disease (STGD1) and to specify the phenotypes. METHODS: We evaluated eight sibs of one family, three family members displayed arCRD, and one STGD1. All of them were screened for mutations using a new microarray for autosomal...
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