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Case report: A Chinese child with Andersen–Tawil syndrome due to a de novo KCNJ2 mutation

Authors :
Jun-Yi Shen
Sheng-Di Chen
Li Cao
Hui-Dong Tang
Xing-Hua Luan
Hai-Yan Zhou
Jing-yi Wang
Xiao-Li Liu
Tian Wang
Xiao-Jun Huang
Source :
Journal of the Neurological Sciences. 352:105-106
Publication Year :
2015
Publisher :
Elsevier BV, 2015.

Abstract

• We identified one de novo novel mutation in KCNJ2 gene in a Chinese patient with Andersen–Tawil syndrome.

Details

ISSN :
0022510X
Volume :
352
Database :
OpenAIRE
Journal :
Journal of the Neurological Sciences
Accession number :
edsair.doi...........11414c9902d6fec1f1832bfccc5fe8e0