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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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| Опубликовано в: : | Orphanet J Rare Dis |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8254246/ https://ncbi.nlm.nih.gov/pubmed/34217342 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01933-y |
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