Branchio-oto-renal syndrome.
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.
Rodríguez Soriano
Juan
J
University of the País Vasco, Department of Pediatrics, Hospital de Cruces, Bilbao, Vizcaya, Spain. jsoriano@hcru.osakidetza.es
D019280:Branchio-Oto-Renal Syndrome / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D013030:Spain / Q000453:epidemiology; D015534:Trans-Activators / Q000235:genetics*
D015534:Trans-Activators