Article
Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
Genes - 27 Nov 2020
Sung Yu-Chi, Yang Chang-Hao, Yang Chung-May, Lin Chao-Wen, Huang Ding-Siang, Huang Yu-Shu, Hu Fung-Rong, Chen Pei-Lung, Chen Ta-Ching
Abstract excerpt
The ABCA4 gene is one of the most common disease-causing genes of inherited retinal degeneration. In this study, we report different phenotypes of ABCA4-associated retinal dystrophies in the Taiwanese population, its clinical progression, and its relationship with genetic characteristics. Thirty-seven subjects were recruited and all patients underwent serial ophthalmic examinations at a single medical center....
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