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Article

A family affected by branchio-oto syndrome with EYA1 mutations.

Auris, nasus, larynx - 1 May 2001

Fukuda S, Kuroda T, Chida E, Shimizu R, Usami S, Koda E, Abe S, Namba A, Kitamura K, Inuyama Y

Abstract excerpt

Branchio-oto (BO) syndrome is complicated with congenital preauricular fistulae, branchial fistulae (cysts), and hearing loss (sensorineural, conductive or mixed). As well as branchio-oto-renal (BOR) syndrome. it is known to be an autosomal dominant hereditary disorder. Since mutations in the EYA1 gene have been identified in both BO and BOR syndromes, mutation screening of this gene has been drawing attention as...

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Source

Identifiers

PMID: 11683347
DOI: 10.1016/s0385-8146(01)00082-7

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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