Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

BACKGROUND: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION: Family members underwent audiological and imaging evaluations, including...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Choi, Hye Ji, Lee, Joon Suk, Yu, Seyoung, Cha, Do Hyeon, Gee, Heon Yung, Choi, Jae Young, Lee, Jong Dae, Jung, Jinsei
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5735594/
https://ncbi.nlm.nih.gov/pubmed/29258540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0511-7
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