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Updated: May 30, 2025

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新生儿伪高阿尔多斯特隆症1型,具有新型NR3C2基因变异

Zakaria Barsoum1

  • 1Department of Paediatrics, South West Acute Hospital, Enniskillen, UK.

Sudanese journal of paediatrics
|January 27, 2025
PubMed
概括

伪双多斯特症 (PHA) 是一种罕见的疾病,模仿先天性上腺增生 (CAH). 在一个患有PHA型1的婴儿和他的无症状父亲身上发现了一种新的NR3C2基因变异,这突显了基因检测的重要性.

关键词:
NM_000901.5:c.1876T>G (p.(Phe626Val)))) 是一个很大的问题.在NR3C2基因中,NR3C2基因被发现.伪高阿尔多斯特主义 (PHA)

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