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

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 C...

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Detalles Bibliográficos
Autores principales:	Wang, Ya-Bing, Wang, Ou, Nie, Min, Jiang, Yan, Li, Mei, Xia, Wei-Bo, Xing, Xiao-Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254246/ https://www.ncbi.nlm.nih.gov/pubmed/34217342 http://dx.doi.org/10.1186/s13023-021-01933-y

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