Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified novel bi-allelic compound heterozygous pathogenic variants in...

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Detalles Bibliográficos
Autores principales: Wonkam-Tingang, Edmond, Schrauwen, Isabelle, Esoh, Kevin K., Bharadwaj, Thashi, Nouel-Saied, Liz M., Acharya, Anushree, Nasir, Abdul, Adadey, Samuel M., Mowla, Shaheen, Leal, Suzanne M., Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690789/
https://www.ncbi.nlm.nih.gov/pubmed/33114113
http://dx.doi.org/10.3390/genes11111249

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690789/
https://www.ncbi.nlm.nih.gov/pubmed/33114113
http://dx.doi.org/10.3390/genes11111249

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