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