A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family

BACKGROUND: X-linked deafness-4 (DFNX4) caused by the functional loss of the SMPX gene is one form of nonsyndromic hearing loss with postlingual onset. This study aimed to investigate the cause of X-linked inherited sensorineural nonsyndromic hearing loss in a four-generation Chinese family and to e...

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Detalles Bibliográficos
Autores principales: Guo, Yingyuan, Hao, Yanru, Zhang, Dejun, Xu, Hongen, Yu, Duojiao, Lv, Jingmao, Fu, Zeming, Han, Shuang, Guo, Fang, Bai, Jie, Guan, Guofang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7944167/
https://www.ncbi.nlm.nih.gov/pubmed/33708524
http://dx.doi.org/10.21037/tp-20-435

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