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- Title
Clinical Presentation and the Presence of Hearing Impairment in Branchio-oculo-facial Syndrome: A New Mutation in the TFAP2A Gene.
- Authors
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
We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP- 2 A 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 clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.
- Subjects
GENETICS of deafness; AUDIOMETRY; CHROMOSOME abnormalities; HEARING disorders; EAR surgery; HEAD abnormalities; GENETIC mutation; ETIOLOGY of diseases; SYMPTOMS
- Publication
Annals of Otology, Rhinology & Laryngology, 2010, Vol 119, Issue 12, p806
- ISSN
0003-4894
- Publication type
Article
- DOI
10.1177/000348941011901204