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...

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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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858611/
https://www.ncbi.nlm.nih.gov/pubmed/36672810
http://dx.doi.org/10.3390/genes14010069

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