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A novel copy number variant in the murine Cdh23...
Journal article

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

Abstract

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 contributors to hearing loss. …

Authors

Boehler NA; Seheult SDI; Wahid M; Hase K; D’Amico SF; Saini S; Mascarenhas B; Bergman ME; Phillips MA; Faure PA

Journal

Human Molecular Genetics, Vol. 33, No. 19, pp. 1648–1659

Publisher

Oxford University Press (OUP)

Publication Date

September 19, 2024

DOI

10.1093/hmg/ddae095

ISSN

0964-6906