Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family

We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ataxic gait. Using whole exome sequencing, we identified a new pathogenic variant (c.1463C>T, p.Pro488Leu) in t...

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Detalles Bibliográficos
Autores principales: Wang, Qi, Xingxing, Lu, Ding, Zhiwei, Qi, Yu, Liu, Yuhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2019
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905455/
https://www.ncbi.nlm.nih.gov/pubmed/31188924
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905455/
https://www.ncbi.nlm.nih.gov/pubmed/31188924
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0051

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