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Peters Plus syndrome: a recognizable clinical entity
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Journal Article
Peters Plus syndrome: a recognizable clinical entity
2020
Overview
Peters plus syndrome is a rare genetic condition wherein multiple systemic involvement with distinctive facial features are manifested, whilst the hallmark is Peters anomaly, occuring from anterior segment dysgenesis. Homozygous variants in the B3GLCT gene were identified to underlie this disorder. We here report on a onemonth- old female patient with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.
Publisher
Hacettepe University Faculty of Medicine,Hacettepe University Institute of Child Health
Subject
