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与VIPAS39相关的关节 - 功能障碍 - 胆固醇综合征 - 病例报告和系统审查

Jan Kafol1, Barbara Gnidovec Strazisar2,3, Ana Drole Torkar1,4

  • 1Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Orphanet journal of rare diseases
|December 30, 2024
PubMed
概括

关节 - 功能障碍 - 胆固醇 (ARC) 综合征显示出遗传多样性,其中VIPAS39基因变异导致各种症状. 早期基因检测对于诊断较轻微,潜在的诊断不足的病例至关重要.

关键词:
在 ARC 综合征中,在 ARCS2 中,关节缩症脏功能障碍胆固醇症综合征这是一个VIPAR VIPAR.这是VIPAS39的VIPAS39

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