A Monoallelic Variant in <i>REST</i> 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 <i>REST&l...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Noluthando Manyisa, Isabelle Schrauwen, Leonardo Alves de Souza Rios, Shaheen Mowla, Cedrik Tekendo-Ngongang, Kalinka Popel, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Abdul Nasir, Edmond Wonkam-Tingang, Carmen de Kock, Collet Dandara, Suzanne M. Leal, Ambroise Wonkam
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>REST</i> RE1-silencing transcription factor non-syndromic hearing impairment South Africa Africa <i>DFNA27</i> Genetics QH426-470
Acceso en línea:	https://doaj.org/article/c996db29cf5246ba9d5c149767b6aa66
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Sea el primero en dejar un comentario!

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

Ejemplares similares