Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss

Hearing loss is a genetically and phenotypically heterogeneous disorder. The purpose of this study was to determine the genetic cause underlying hearing loss in four Ashkenazi Jewish families. We screened probands from each family using a combination of targeted mutation screening and exome sequenci...

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Detalles Bibliográficos
Autores principales: Booth, Kevin T., Hirsch, Yoel, Vardaro, Anna C., Ekstein, Josef, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Corey, David P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558392/
https://www.ncbi.nlm.nih.gov/pubmed/34733312
http://dx.doi.org/10.3389/fgene.2021.737782

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558392/
https://www.ncbi.nlm.nih.gov/pubmed/34733312
http://dx.doi.org/10.3389/fgene.2021.737782

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