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...

Whakaahuatanga katoa

Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	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
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	MDPI AG 2024-02-01
Rangatū:	Children
Ngā marau:	genetic hearing loss connexin GJB2/GJB6 gene mutation audiological phenotype
Urunga tuihono:	https://www.mdpi.com/2227-9067/11/2/194
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!