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