Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

This study identifies new associations for PRR12 disruption in humans and presents a genetic diagnosis resulting in unilateral ocular phenotypes in a significant proportion of cases. PMID: 33314030 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33314030?dopt=Abstract

Source: Clinical Genetics - December 13, 2020 Category: Genetics & Stem Cells Authors: Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, University of Washington Center for Mendelian Genomics, Semina EV Tags: Clin Genet Source Type: research