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Article

Branchio-oto-renal syndrome.

Journal of nephrology - 1 Jan 2000

Rodríguez Soriano Juan

Abstract excerpt

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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Source

Identifiers

PMID: 14696767

Genes

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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