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Article

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

Nature genetics - 1 Apr 2005

Schönberger Jost, Wang Libin, Shin Jordan T, Kim Sang Do, Depreux Frederic F S, Zhu Hao, Zon Leonard, Pizard Anne, Kim Jae B, Macrae Calum A, Mungall Andy J, Seidman J G, Seidman Christine E

Abstract excerpt

We identified a human mutation that causes dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss (SNHL). Unlike previously described mutations causing dilated cardiomyopathy that affect structural proteins, this mutation deletes 4,846 bp of the human transcriptional coactivator gene EYA4. To elucidate the roles of eya4 in heart function, we studied zebrafish embryos injected with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15735644
DOI: 10.1038/ng1527

Genes

EYA4

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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