Development of a gene-therapy vector for RDH12-associated retinal dystrophy.
Sign Up to like & getrecommendations! Published in 2019 at "Human gene therapy"
DOI: 10.1089/hum.2019.017
Abstract: Early-onset severe retinal degeneration (EOSRD) is a genetically heterogeneous group of diseases resulting in serious visual disability in children. A significant number of EOSRD cases, often diagnosed as Leber congenital amaurosis (LCA13), are associated with… read more here.
Keywords: vector; rdh12; gene therapy; retinal degeneration ... See more keywords
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.715100
Abstract: Retinitis pigmentosa (RP) is characterized by tremendous genetic and phenotypic heterogeneity. Here, we investigate the pathogeny of RP in a family to provide evidence for genetic and reproductive counseling for families. Although this pregnant woman… read more here.
Keywords: rdh12; mfsd8; family; retinitis pigmentosa ... See more keywords