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Updated: Jul 24, 2025

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分子基础和基因测试策略用于诊断21-基酶缺乏症,包括CAH-X综合征

Ja Hye Kim1, Gu-Hwan Kim2, Han-Wook Yoo3

  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Annals of pediatric endocrinology & metabolism
|July 4, 2023
PubMed
概括

先天性上腺增生 (CAH) 是由CYP21A2基因突变引起的. 对CAH和CAH-X综合征的基因检测需要评估基因重组和拷贝数变异,以准确诊断和预后.

关键词:
缺少21-基酶的情况在CYP21A2中.遗传性上腺过度增生副本数量变化的变化

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