Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles

Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles

GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants. The aim of this study was to investigate the clinical and audiological features...

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Bibliographic Details
Main Authors: Leonardo Franz, Alessandro Incognito, Chiara Gallo, Licia Turolla, Elisa Scquizzato, Roberta Cenedese, Alessandro Matarazzo, Daniel Savegnago, Paolo Zanatta, Elisabetta Genovese, Cosimo de Filippis, Gino Marioni
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Children
Subjects:
genetic hearing loss
connexin
GJB2/GJB6 gene mutation
audiological phenotype
Online Access:https://www.mdpi.com/2227-9067/11/2/194

Internet

https://www.mdpi.com/2227-9067/11/2/194

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