病例报告 : 一名中国儿童因 KCNJ2 突变而患有 Andersen - Tawil 综合征。
关键词: Andersen–Tawil syndrome KCNJ2 Periodic paralysis
Mesh : Andersen Syndrome / diagnosis genetics physiopathology Child China Electrocardiography Humans Male Mutation Potassium Channels, Inwardly Rectifying / genetics
来 源: DOI:10.1016/j.jns.2015.02.027 PDF(Sci-hub)