Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

OBJECTIVE: Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at investigating the molecular basis of HL in an affected Chinese family and the genotype-phenotype correlation of WFS1 variants. METHO...

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Detalles Bibliográficos
Autores principales: Li, Jinying, Xu, Hongen, Sun, Jianfeng, Tian, Yongan, Liu, Danhua, Qin, Yaping, Liu, Huanfei, Li, Ruijun, Neng, Lingling, Deng, Xiaohua, Xue, Binbin, Yu, Changyun, Tang, Wenxue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260318/
https://www.ncbi.nlm.nih.gov/pubmed/34258273
http://dx.doi.org/10.1155/2021/6624744

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260318/
https://www.ncbi.nlm.nih.gov/pubmed/34258273
http://dx.doi.org/10.1155/2021/6624744

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