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Article

Mutation of the EYA1 gene in patients with branchio-oto syndrome.

Acta oto-laryngologica - 1 Jan 2003

Yashima Takatoshi, Noguchi Yoshihiro, Ishikawa Kinya, Mizusawa Hidehiro, Kitamura Ken

Abstract excerpt

Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant disorders, characterized by the presence of branchial, otic and renal anomalies of varying degrees of severity. We investigated the presence of EYA1 mutation in two unrelated patients with autosomal dominant hereditary deafness and congenital preauricular fistula. Case 1 had a mutation and polymorphisms, while Case 2 had polymorphisms...

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Source

Identifiers

PMID: 12701758
DOI: 10.1080/0036554021000028103

Genes

EYA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutation of the EYA1 gene in patients with branchio-oto syndrome.PMID 12701758Read ↗

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