New ocular finding in Baraitser-Winter syndrome.

We report a 3-year-old girl with short stature, mild developmental delay and intellectual disability, minor brain anomalies and very few dysmorphic features including unusual stroma of the irises and corectopia. Exome sequencing reported a de novo pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum which may be mild. PMID: 29024830 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29024830?dopt=Abstract

Source: European Journal of Medical Genetics - October 9, 2017 Category: Genetics & Stem Cells Authors: Rall N, Leon A, Gomez R, Daroca J, Lacassie Y Tags: Eur J Med Genet Source Type: research