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针对小儿周期性库希综合征的单侧上腺切除术,具有新型PRKAR1A变异关联脏复合体变异

Chris J Zhang1,2, Robert Stein1,3,4, Maha Saleh1,3,5

  • 1Schulich School of Medicine and Dentistry, Western University, London, ON, Canada N6A 5W9.

JCEM case reports
|July 14, 2025
PubMed
概括

初级色素结节性上腺皮质疾病是库辛综合征的罕见原因,在一个男孩身上诊断出了一种与卡尼综合体相关的新型PRKAR1A变异. 单边上腺切除术导致他周期性症状的持续缓解.

关键词:
卡尼综合体是什么?卡尼综合体是什么这是一个PPNADPPNAD.循环的 库希综合征 库希综合征单边的上腺切除术

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