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Article

Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.

Orphanet journal of rare diseases - 3 Jul 2021

Wang Ya-Bing, Wang Ou, Nie Min, Jiang Yan, Li Mei, Xia Wei-Bo, Xing Xiao-Ping

Abstract excerpt

BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34217342
DOI: 10.1186/s13023-021-01933-y
PMCID: PMC8254246

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