Article
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
Ophthalmic genetics - 1 Nov 2011
Aliferis Konstantinos, Stoetzel Corinne, Pelletier Valérie, Hellé Sophie, Angioï-Duprez Karine, Vigneron Jacqueline, Leheup Bruno, Marion Vincent, Dollfus Hélène
Abstract excerpt
INTRODUCTION: Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal dominant congenital disorder defined by branchial defects, ocular anomalies and craniofacial malformations, including variable degrees of cleft lip with or without cleft palate. In addition, temporal bone anomalies, renal and ectodermal manifestations can be present. Mutations in the TFAP2A gene have been reported in patients with BOFS,...
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