Article
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
Molecular vision - 8 May 2010
Al-Dosari M S, Almazyad M, Al-Ebdi L, Mohamed J Y, Al-Dahmash Saad, Al-Dhibi Hassan, Al-Kahtani Eman, Al-Turkmani Shahira, Alkuraya Hisham, Hall B D, Alkuraya F S
Abstract excerpt
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....
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