Article
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
Ophthalmic genetics - 1 Jun 2012
Dumitrescu Alina V, Milunsky Jeff M, Longmuir Susannah Q, Drack Arlene V
Abstract excerpt
BACKGROUND: Branchio-Oculo-Facial syndrome (BOFS) is a rare, autosomal dominant developmental disorder that has a distinct phenotype with characteristic craniofacial abnormalities. We report a family with extensive ocular manifestations of BOFS caused by a novel mutation in the transcription factor AP-2 alpha (TFAP2A) gene. MATERIALS AND METHODS: Case report of phenotypic and genotypic characterization of a...
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