scholarly journals Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family

2020 ◽  
Vol 11 ◽  
Author(s):  
Xi Chen ◽  
Bao-Long Jia ◽  
Mei-Hui Li ◽  
Yuan Lyu ◽  
Cai-Xia Liu
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Splicing Variant ◽  
Syndromic Hearing Loss

Identification of a novel missense eya4 mutation causing autosomal dominant non‑syndromic hearing loss in a chinese family

2019 ◽  
Vol 65 (3) ◽  
pp. 84 ◽  
Author(s):  
Shu-ying Xiao ◽  
Jing Qu ◽  
Qin Zhang ◽  
Ting Ao ◽  
Jun Zhang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Syndromic Hearing Loss

A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family

2018 ◽  
Vol 104 ◽  
pp. 108-112 ◽  
Author(s):  
Yuan Liang ◽  
Kangwei Wang ◽  
Qi Peng ◽  
Pengyuan Zhu ◽  
Chunqiu Wu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Family ◽  
Novel Variant ◽  
Syndromic Hearing Loss

scholarly journals A novel POU domain class 3 transcription factor 4 mutation causes X-linked non-syndromic hearing loss in a Chinese family

2019 ◽  
Vol 132 (18) ◽  
pp. 2251-2253
Author(s):  
Hong-Min Wu ◽  
Hui-Qun Jie ◽  
Hui Wang ◽  
Ya-Qin Wu ◽  
Zheng-Nong Chen ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Hearing Loss ◽  
Chinese Family ◽  
Pou Domain ◽  
Syndromic Hearing Loss ◽  
Transcription Factor 4

scholarly journals A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss

2015 ◽  
Vol 10 (2) ◽  
pp. 78-82 ◽  
Author(s):  
Bang-qing Huang ◽  
Jia-ling Zeng ◽  
Yong-yi Yuan ◽  
Pu Dai
Keyword(s):  
Hearing Loss ◽  
Novel Mutation ◽  
Chinese Family ◽  
Syndromic Hearing Loss
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