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J Nephrol. 2003 Jul-Aug;16(4):603-5.

Branchio-oto-renal syndrome.

Author information

  • 1University of the País Vasco, Department of Pediatrics, Hospital de Cruces, Bilbao, Vizcaya, Spain. jsoriano@hcru.osakidetza.es

Abstract

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss and renal anomalies. Mutations in the EYA1 gene, a human homologue of the drosophila "eyes absent" gene, are identified as the cause of BOR syndrome.

PMID:
14696767
[PubMed - indexed for MEDLINE]
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