Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease

PURPOSE: To identify the gene causing a severe form of progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease and to characterize clinical features in a large American family. METHODS: We characterized an American family who had an unusual retinal dystrophy with clinical...

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Bibliographic Details
Main Authors: Xi, Quansheng, Li, Lin, Traboulsi, Elias I., Wang, Qing Kenneth
Format: Artigo
Language:Inglês
Published: Molecular Vision 2009
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2665199/
https://ncbi.nlm.nih.gov/pubmed/19352439
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