Novel variants associated with Stargardt disease in Chinese patients.
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DOI: 10.1016/j.gene.2020.144890
Abstract: PURPOSE Stargardt disease (STGD) is the most frequent cause of hereditary macular dystrophy in childhood. Variants in the ABCA4, ELOVL4, PROM1, BEST1, and PRPH2 genes have been detected in patients with autosomal recessive or dominant… read more here.
Keywords: stgd; variants abca4; disease; chinese patients ... See more keywords