Branchio-oto-renal syndrome

Journal/Book: J Commun Disord. 1998; 31: 655 Avenue of the Americas, New York, NY 10010. Elsevier Science Inc. 411-421.

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.

Note: Article Smith RJH, Univ Iowa, Dept Otolaryngol Head & Neck Surg, Mol Otolaryngol Res Labs, Iowa City,IA 52242 USA

Keyword(s): hearing loss; branchial arch anomalies; renal anomalies; pre-auricular pits; pinnae deformities; EYES ABSENT GENE; BOR SYNDROME; HEARING-LOSS; LOCALIZATION; DYSPLASIA; FAMILY; CHROMOSOME-8Q; ANOMALIES; LINKAGE; 8Q

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