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Article

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.

Genes - 9 Dec 2020

Ramzan Khushnooda, Al-Numair Nouf S, Al-Ageel Sarah, Elbaik Lina, Sakati Nadia, Al-Hazzaa Selwa A F, Al-Owain Mohammed, Imtiaz Faiqa

Abstract excerpt

Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The encoded protein cadherin 23 (CDH23) plays a vital role in maintaining normal cochlear and retinal function. The present study's objective was to elucidate the role of...

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Source

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Identifiers

PMID: 33316915
DOI: 10.3390/genes11121474
PMCID: PMC7764456

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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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Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.PMID 33316915Read ↗

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