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Updated: Jun 24, 2025

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十三名印度人患有坎普托达克提利 - 关节病变 - 焦沙瓦拉 - 心炎综合征

Swati Singh1, Vaishnavi Ashok Badiger1, Suma Balan2

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka.

Clinical dysmorphology
|June 10, 2024
PubMed
概括

由PRG4基因变异引起的坎普托达克提利 - 关节病 - 科克萨瓦拉 - 心炎 (CACP) 综合征导致渐进的关节形. 这项研究在印度家庭中发现了七种PRG4突变,这些突变与CACP综合征有关.

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