A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.

Conclusions: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families. PMID: 32202185 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32202185?dopt=Abstract

Source: Ophthalmic Genetics - March 25, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research