Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family

Jervell and Lange-Nielsen syndrome (JLNS) is a rare but severe autosomal recessive disease characterized by profound congenital deafness and a prolonged QTc interval (greater than 500 milliseconds) in the ECG waveforms. The prevalence of JLNS is about 1/1000000 to 1/200000 around the world. However,...

Full description

Saved in:
Bibliographic Details
Main Authors: Yue Qiu, Sen Chen, Xia Wu, Wen-Juan Zhang, Wen Xie, Yuan Jin, Le Xie, Kai Xu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Yu Sun, Wei-Jia Kong
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Neural Plasticity
Online Access:http://dx.doi.org/10.1155/2020/3569359
Tags: Add Tag
No Tags, Be the first to tag this record!