A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

CONCLUSIONS: We have identified a recurrent splice-site mutation c.2826-9G>A in EPHA2 causing isolated posterior nuclear cataract, providing evidence of further phenotypic heterogeneity associated with this variant. PMID: 29039721 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29039721?dopt=Abstract

Source: Ophthalmic Genetics - October 20, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research