Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish
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DOI: 10.1016/j.exer.2019.107852
Abstract: Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We describe a novel fibrovascular proliferation in the retina of two affected members of a KCNJ13-related LCA… read more here.
Keywords: associated retinovascular; retinovascular changes; missense; conserved transmembrane ... See more keywords