A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome sequencing, and a novel monoallelic variant in REST [c.1244GC;...

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Detalles Bibliográficos
Autores principales: Manyisa, Noluthando, Schrauwen, Isabelle, de Souza Rios, Leonardo Alves, Mowla, Shaheen, Tekendo-Ngongang, Cedrik, Popel, Kalinka, Esoh, Kevin, Bharadwaj, Thashi, Nouel-Saied, Liz M., Acharya, Anushree, Nasir, Abdul, Wonkam-Tingang, Edmond, de Kock, Carmen, Dandara, Collet, Leal, Suzanne M., Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618167/
https://www.ncbi.nlm.nih.gov/pubmed/34828371
http://dx.doi.org/10.3390/genes12111765

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