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Article

A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction.

Human molecular genetics - 19 Sept 2024

Boehler Nicholas A, Seheult Shane D I, Wahid Muhammad, Hase Kazuma, D'Amico Sierra F, Saini Shakshi, Mascarenhas Brittany, Bergman Matthew E, Phillips Michael A, Faure Paul A, Cheng Hai-Ying Mary

Abstract excerpt

Hearing loss is the most common congenital sensory deficit worldwide and exhibits high genetic heterogeneity, making molecular diagnoses elusive for most individuals. Detecting novel mutations that contribute to hearing loss is crucial to providing accurate personalized diagnoses, tailored interventions, and improving prognosis. Copy number variants (CNVs) are structural mutations that are understudied, potential...

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Source

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Identifiers

PMID: 38981620
DOI: 10.1093/hmg/ddae095
PMCID: PMC11413645

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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