Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene

The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for the Romanian population. In total, 284 unrelated...

Descripción completa

Detalles Bibliográficos
Autores principales: Riza, Anca-Lelia, Alkhzouz, Camelia, Farcaș, Marius, Pîrvu, Andrei, Miclea, Diana, Mihuț, Gheorghe, Pleșea, Răzvan-Mihail, Ștefan, Delia, Drodar, Mihaela, Lazăr, Călin, Study, on behalf of the HINT, Study, on behalf of the FUSE, Ioana, Mihai, Popp, Radu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858611/
https://www.ncbi.nlm.nih.gov/pubmed/36672810
http://dx.doi.org/10.3390/genes14010069

Ejemplares similares

Ejemplares similares