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Article

Genetic aetiology of primary adrenal insufficiency in Chinese children.

BMC medical genomics - 30 Jun 2021

Chang Zhuo, Lu Wei, Zhao Zhuhui, Xi Li, Li Xiaojing, Ye Rong, Ni Jinwen, Pei Zhou, Zhang Miaoying, Cheng Ruoqian, Zheng Zhangqian, Sun Chengjun, Wu Jing, Luo Feihong

Abstract excerpt

BACKGROUND: Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies of PAI in South China and explore their clinical features. METHODS: Seventy children were enrolled in this cross-sectional study. Clinical information was collected, and combined genetic tests...

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Identifiers

PMID: 34193132
DOI: 10.1186/s12920-021-01021-x
PMCID: PMC8243448

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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