SERPINA6

Mary R Jiang1,2,3, Caroline Zuijdwijk1,2,3, Melissa T Carter4,2,3

  • 1Department of Pediatrics, Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.

JCEM case reports
|May 14, 2025
PubMed
概括

皮质类固醇结合球蛋白 (CBG) 缺乏,是一种罕见的疾病,可以模仿儿童的上腺功能不全. 基因测试在一个有症状的患者中发现了特定的变异,而携带相同变异的兄弟姐妹则无症状.

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