EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review

Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss. This gene encodes the EPS8 protein in cochlear inner hair cells and performs critical roles in stimulating actin polymerization and bundling. Thus far, only four pathogenic variations in EPS8 have been described. In this study...

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Detalles Bibliográficos
Autores principales: Abbasi, Zahra, Jafari Khamirani, Hossein, Tabei, Seyed Mohammad Bagher, Manoochehri, Jamal, Dianatpour, Mehdi, Dastgheib, Seyed Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837036/
https://www.ncbi.nlm.nih.gov/pubmed/36635257
http://dx.doi.org/10.1038/s41439-023-00229-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837036/
https://www.ncbi.nlm.nih.gov/pubmed/36635257
http://dx.doi.org/10.1038/s41439-023-00229-w

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