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Article

BOR and BO syndromes are allelic defects of EYA1.

European journal of human genetics : EJHG - 1 Jan 2000

Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo F M, Petit C

Abstract excerpt

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by varying combinations of branchial, otic and renal anomalies. By positional cloning, a candidate gene, EYA1, homologous to the drosophila eyes absent gene, has recently been identified at 8q13.3 and shown to underlie this syndrome. The name branchio-oto (BO) syndrome has been used to describe a similar combination of branchial and...

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Source

Identifiers

PMID: 9359046

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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BOR and BO syndromes are allelic defects of EYA1.PMID 9359046Read ↗

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Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndromeSemantic proximity Read ↗

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