DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the <i>ACTG1</i> gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. <i>ACTG1</i> gene e...

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Bibliographic Details
Main Authors: Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson, Francesca Boaretto, Alessandro Martini, Matteo Cassina
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Audiology Research
Subjects:
Online Access:https://www.mdpi.com/2039-4349/11/4/52