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Updated: May 5, 2026

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与AOPEP相关的自体逆向性 dystonia:关于Zech-Boesch综合征的最新情况

Sylvia Boesch1, Michael Zech2,3,4

  • 1Department of Neurology, Medical University of Innsbruck, Innsbruk, Austria.

Journal of medical genetics
|March 27, 2025
PubMed
概括

由AOPEP变体引起的自体递归Zech-Boesch综合征是一种罕见的遗传性 dystonia. 这篇综述详细介绍了其全球流行,遗传突变和临床特征,提供了对 dystonia 病原体的见解.

关键词:
诊断 诊断 诊断 诊断 诊断遗传性疾病,先天性疾病

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