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Article

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2001

Rodríguez-Soriano J, Vallo A, Bilbao J R, Castaño L

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'...

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Branchio-Oto-Renal Syndrome
Exons
Intracellular Signaling Peptides and Proteins
Introns
Kidney
Nuclear Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Tyrosine Phosphatases

Trans-Activators

Source

Identifiers

PMID: 11465802
DOI: 10.1007/s004670100603

Genes

EYA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11465802-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.PMID 11465802Read ↗

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