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Updated: Jan 25, 2026

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一个多系统缩模仿病例报告:在疑似家族病例中全面评估的重要性

Chanhee Jeong1, Matthew Farrer2, Vikram Khurana3

  • 1Department of Neurology, Seoul National University Hospital and Seoul National University College of Medicine, Seoul, Republic of Korea.

Medicine
|January 24, 2026
PubMed
概括

基因检测显示,晚期发病的甲基色白血病 (MLD) 在一位表亲身上模仿多系统性缩 (MSA),这突显了在疑似家族性MSA病例中考虑罕见模仿者的重要性.

关键词:
案例报告案例报告甲染色性白血病 (MLD) 是一种疾病.多个系统缩 (MSA)全基因组测序 (WGS) 是一种全基因组测序.

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