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Article

A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.

Audiology & neuro-otology - 1 Jan 2020

Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morteza, Salehi Mansoor, Abtahi Hamidreza, Noori-Daloii Mohammad Reza, Tabatabaiefar Mohammad Amin

Abstract excerpt

BACKGROUND AND OBJECTIVES: Identification of the pathogenic mutations underlying hereditary hearing loss (HL) is difficult, since causative mutations in 60 different genes have so far been reported. METHODS: A comprehensive clinical and pedigree examination was performed on a multiplex family suffering from HL. Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL...

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PMID: 32485727
DOI: 10.1159/000506500

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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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