Branchio-oto-renal syndrome.
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.
Smith
R J
RJ
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA. richard-smith@uiowa.edu
Schwartz
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D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D003638:Deafness / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D009687:Nuclear Proteins; D017027:Protein Tyrosine Phosphatases; D015534:Trans-Activators / Q000235:genetics
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases