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Article

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

BMC medical genetics - 7 Aug 2018

Wang Yan-Gong, Sun Shu-Ping, Qiu Yi-Ling, Xing Qing-He, Lu Wei

Abstract excerpt

BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila "eye absent" gene on chromosome 8q13.3, is recognized as one of the most important genes associated with BOR syndrome. METHODS: The proposita in this study was a 5-year-old Chinese...

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Source

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Identifiers

PMID: 30086703
DOI: 10.1186/s12881-018-0653-2
PMCID: PMC6081847

Genes

EYA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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