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背景与临床意义:Cantú综合征(OMIM #239850)是一种由编码ATP敏感性钾(KATP)通道亚基的ABCC9或KCNJ8功能获得性(Gain-of-function, GoF)变异引起的罕见常染色体显性遗传病。其典型特征包括全身性多毛症、粗糙面容、骨 背景与临床意义:Cantú综合征(OMIM #239850)是一 ...