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

• Autors principals: Hye Ji Choi (Autor), Joon Suk Lee (Autor), Seyoung Yu (Autor), Do Hyeon Cha (Autor), Heon Yung Gee (Autor), Jae Young Choi (Autor), Jong Dae Lee (Autor), Jinsei Jung (Autor)
• Format: Llibre
• Publicat: BMC, 2017-12-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

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...