A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss

BACKGROUND: Deafness is the most common sensory defect in humans worldwide. Approximately 50% of cases are attributed to genetic factors, and about 70% are non-syndromic hearing loss (NSHL). OBJECTIVES: To identify clinically relevant gene variants associated with NSHL in a Chinese family using trio...

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Detalles Bibliográficos
Autores principales: Liang, Jingwen, Yu, Zhuoheng, Wang, Zhangxing, Chen, Jianxia, Liu, Yihuan, Yin, Zhaoqing, Xu, Ruihuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9788774/
https://www.ncbi.nlm.nih.gov/pubmed/36568422
http://dx.doi.org/10.3389/fped.2022.1032659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9788774/
https://www.ncbi.nlm.nih.gov/pubmed/36568422
http://dx.doi.org/10.3389/fped.2022.1032659

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