Branchio-oto-renal syndrome |
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Authors: | RJ Smith C Schwartz |
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Affiliation: | Department of Otolaryngology, University of Iowa, Iowa City 52242, USA. richard-smith@uiowa.edu |
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Abstract: | Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The branchial manifestations usually are inconsequential, however the hearing impairment and renal malformations can be significant. The disease is caused by mutations in the EYA1 gene. |
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