Article
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Clinical genetics - 1 Mar 2021
Reis Linda M, Costakos Deborah, Wheeler Patricia G, Bardakjian Tanya, Schneider Adele, Fung Simon S M, Semina Elena V
Abstract excerpt
Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function alleles in PRR12 in families affected by complex microphthalmia and/or Peters anomaly, including two...
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