Original paper
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
Abstract
To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).Full ophthalmological evaluation and direct sequencing of TFAP2A.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.This report expands the ocular phenotypic spectrum of BOFS and adds...
Paper Details
Title
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
Published Date
May 8, 2010
Journal
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Notes
History