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Article

Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.

Genes & genomics - 1 Mar 2025

Liao Baoqiong, Xie Wuming, Liu Rutian, Zhang Qi, Xie Ting, Jia Dan, He Shuwen, Huang Hailong

Abstract excerpt

BACKGROUND: Hearing loss adversely impacts language development, acquisition, and the social and cognitive maturation of affected children. The hearing loss etiology mainly includes genetic factors and environmental factors, of which the former account for about 50-60%. OBJECTIVE: This study aimed to investigate the genetic basis of autosomal recessive non-syndromic hearing loss (NSHL) by identifying and...

Read the complete abstract on PubMed

Topics

Child
Female
Humans
Cadherin Related Proteins
Cadherins
Deafness
Exome Sequencing

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

Genes, Recessive

Heterozygote

Mutation

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 39777619
DOI: 10.1007/s13258-024-01611-w
PMCID: PMC11906507

Genes

CDH23

Variants

Provenance

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