Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for GJB2 pathogenic variants. DNA samples from 184 family members underwent whole-exome sequencing (WES). Variants were found in 14 known non-syndromic HI (NSHI) genes [26/51 (51.0...

Descripción completa

Detalles Bibliográficos
Autores principales: Wonkam, Ambroise, Adadey, Samuel Mawuli, Schrauwen, Isabelle, Aboagye, Elvis Twumasi, Wonkam-Tingang, Edmond, Esoh, Kevin, Popel, Kalinka, Manyisa, Noluthando, Jonas, Mario, deKock, Carmen, Nembaware, Victoria, Cornejo Sanchez, Diana M., Bharadwaj, Thashi, Nasir, Abdul, Everard, Jenna L., Kadlubowska, Magda K., Nouel-Saied, Liz M., Acharya, Anushree, Quaye, Osbourne, Amedofu, Geoffrey K., Awandare, Gordon A., Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019055/
https://www.ncbi.nlm.nih.gov/pubmed/35440622
http://dx.doi.org/10.1038/s42003-022-03326-8

Ejemplares similares

Ejemplares similares