Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.
Sign Up to like & getrecommendations! Published in 2020 at "Experimental eye research"
DOI: 10.1016/j.exer.2020.108165
Abstract: Familial exudative vitreoretinopathy (FEVR) is an inherited disease characterized by abnormal development of retinal vasculature. KIF11 mutations were identified to be associated with FEVR in recent years. The purpose of this study was to investigate… read more here.
Keywords: kif11 mutations; exudative vitreoretinopathy; patients kif11; familial exudative ... See more keywords
Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13040713
Abstract: Background: This study aimed to report the frequency of KIF11-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of KIF11-associated retinopathy and compare KIF11-associated retinopathy to FEVR with mutations in other… read more here.
Keywords: associated retinopathy; mutations genes; kif11 associated; kif11 mutations ... See more keywords