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Article

A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome.

Acta oto-laryngologica - 1 Jun 2009

Kwon Min-Jung, Boo Sung Hyun, Kim Hee-Jin, Cho Yang-Sun, Chung Won-Ho, Hong Sung Hwa

Abstract excerpt

Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant hereditary disorders characterized by the presence of hearing loss and branchial fistulae and cysts, with (BOR syndrome) or without (BO syndrome) renal malformations of varying degrees of severity. Mutations in the human homologous of the Drosophila eyes absent (EYA1) gene are frequently the cause of BOR/BO syndrome. Here we describe...

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Identifiers

PMID: 18763178
DOI: 10.1080/00016480802342432

Genes

EYA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome.PMID 18763178Read ↗

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