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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Autores principales:	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
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	MDPI AG 2024-02-01
Colección:	Children
Materias:	genetic hearing loss connexin GJB2/GJB6 gene mutation audiological phenotype
Acceso en línea:	https://www.mdpi.com/2227-9067/11/2/194
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