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pubmed:abstractText |
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.
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pubmed:affiliation |
University of the País Vasco, Department of Pediatrics, Hospital de Cruces, Bilbao, Vizcaya, Spain. jsoriano@hcru.osakidetza.es
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