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结节性硬化症一家系临床分析并文献复习 被引量:1

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摘要 结节性硬化症(tuberous sclerosis complex,TSC)又称Bourneville病,是一种常染色体显性遗传性多系统受累的神经皮肤综合征。典型的TSC三联征包括:癫痫,智能减退,皮肤血管纤维瘤。其发病率为1:6000~1:10000,其中70%的TSC患者为散发病例,30%的患者有家族遗传史。本组发现一结节性硬化家系,现报道如下。
出处 《医学临床研究》 CAS 2009年第1期156-157,共2页 Journal of Clinical Research
关键词 结节性硬化症
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