Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

Pathogenic variants in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss worldwide. Earlier, we found a high proportion of SLC26A4-related hearing loss with prevailing pathogenic variant c.919-2A>G (69.3% a...

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Detalles Bibliográficos
Autores principales: Danilchenko, Valeriia Yu., Zytsar, Marina V., Maslova, Ekaterina A., Orishchenko, Konstantin E., Posukh, Olga L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137394/
https://www.ncbi.nlm.nih.gov/pubmed/37107686
http://dx.doi.org/10.3390/genes14040928

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