Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
نویسندگان
چکیده
PURPOSE To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A). METHODS Full ophthalmological evaluation and direct sequencing of TFAP2A. RESULTS A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified. CONCLUSIONS This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
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