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Updated: Sep 17, 2025

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临床表现的诊断准确性在识别结核性硬化综合症患者时

Jimmy Li1,2, Zaki El Haffaf2,3, Jean-Baptiste Lattouf2,4

  • 1Neurology Division, Centre hospitalier de l'Université de Sherbrooke (CHUS), Sherbrooke, Canada.

Neurology. Genetics
|July 4, 2025
PubMed
概括

像大脑和皮肤表现这样的临床特征对于在家庭中查结核性硬化综合体 (TSC) 是非常有效的,即使基因检测是不确定的. 这种方法有助于诊断TSC,当没有发现致病变体时.

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