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Article

CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.

Human genetics - 1 Oct 2023

Roux Isabelle, Fenollar-Ferrer Cristina, Lee Hyun Jae, Chattaraj Parna, Lopez Ivan A, Han Kyungreem, Honda Keiji, Brewer Carmen C, Butman John A, Morell Robert J, Martin Donna M, Griffith Andrew J

Abstract excerpt

Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identified in patients with sensorineural hearing loss. EVA is associated with pathogenic variants in SLC26A4. However, in European-Caucasian populations, about 50% of patients with EVA carry no pathogenic alleles of SLC26A4. We tested for the presence of variants in CHD7, a gene known to be...

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Identifiers

PMID: 37668839
DOI: 10.1007/s00439-023-02581-x
PMCID: PMC10511616

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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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