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Article

The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Guoying Chang, Zhiya Dong, Wei Wang, Na Li, Xiaoying Li, Yuan Xiao, Defen Wang

Abstract excerpt

OBJECTIVES: To analyze the clinical manifestations of primary adrenal insufficiency in Chinese boys, to investigate the prevalence of DAX1 and SF1 gene mutations, and to explore the association between gene mutations and clinical manifestations. SUBJECTS AND METHODS: A total of 25 boys with primary adrenal insufficiency were enrolled. Mutational analysis of the DAX1 and SF1 genes was done by direct sequencing....

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PMID: 22768659
DOI: 10.1515/jpem-2011-0362

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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