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 ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. ACTG1 gene encodes gamma actin, the predominant ac...

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Detalles Bibliográficos
Autores principales: Sorrentino, Ugo, Piccolo, Chiara, Rigon, Chiara, Brasson, Valeria, Trevisson, Eva, Boaretto, Francesca, Martini, Alessandro, Cassina, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544197/
https://www.ncbi.nlm.nih.gov/pubmed/34698053
http://dx.doi.org/10.3390/audiolres11040052

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544197/
https://www.ncbi.nlm.nih.gov/pubmed/34698053
http://dx.doi.org/10.3390/audiolres11040052

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