Article
Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.
The Annals of otology, rhinology, and laryngology - 1 Dec 2010
Thomeer Henricus G X M, Crins Tom T H, Kamsteeg Erik J, Buijsman Wendy, Cruysberg Johannes R M, Knoers Nine V A M, Cremers Cor W R J
Abstract excerpt
We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinic...
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