A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.162687
Abstract: Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exome sequencing, and its pathogenicity was… read more here.
Keywords: stargardt disease; disease; deletion insertion; phenocopies stargardt ... See more keywords