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

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

Abstract 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, inc...

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Bibliographic Details
Main Authors: Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung
Format: Article
Language:English
Published: BMC 2017-12-01
Series:BMC Medical Genetics
Subjects:
WFS1
Low-frequency hearing loss
Nonsyndromic hearing loss
Autosomal dominant
Online Access:http://link.springer.com/article/10.1186/s12881-017-0511-7

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