Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of hereditary hearing impairment. Genotypically and phenotypically NSHL is extremely heterogenous and follow either autosomal dom...

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Detalles Bibliográficos
Autores principales: An, Jinxia, Yang, Jie, Wang, Yan, Wang, Yanxia, Xu, Baicheng, Xie, Guangmei, Chai, Sanming, Liu, Xiaoling, Xu, Sijuan, Wen, Xiaoxiao, He, Qing, Liu, Huijun, Li, Chen, Dey, Subrata Kumar, Ni, Yali, Banerjee, Santasree
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370629/
https://www.ncbi.nlm.nih.gov/pubmed/30804975
http://dx.doi.org/10.3389/fgene.2019.00001

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