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Article

Branchio-oto-renal syndrome.

American journal of medical genetics. Part A - 15 Jul 2007

Kochhar Amit, Fischer Stephanie M, Kimberling William J, Smith Richard J H

Abstract excerpt

Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of the more common forms of autosomal dominant syndromic hearing impairment. Three loci known to be associated with the BOR phenotype have been identified and two genes that act in a regulatory network have been cloned, EYA1 and SIX1. EYA1 and SIX1 are...

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Source

Identifiers

PMID: 17238186
DOI: 10.1002/ajmg.a.31561

Genes

SIX1
EYA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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