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,...

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Dades bibliogràfiques
Publicat a:Neural Plast
Autors principals: Qiu, Yue, Chen, Sen, Wu, Xia, Zhang, Wen-Juan, Xie, Wen, Jin, Yuan, Xie, Le, Xu, Kai, Bai, Xue, Zhang, Hui-Min, Liu, Xiao-Zhou, Wang, Xiao-Hui, Sun, Yu, Kong, Wei-Jia
Format: Artigo
Idioma:Inglês
Publicat: Hindawi 2020
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7246397/
https://ncbi.nlm.nih.gov/pubmed/32508908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/3569359
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