A novel variant in AIRE causing a rare, non-classical autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare inherited autoimmune disease, characterized by a classic triad, including chronic mucocutaneous candidiasis, primary adrenocortical insufficiency and hypoparathyroidism. The present study investigated phenotypes and pathogenic variants in a...

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Detalles Bibliográficos
Autores principales: Zheng, Wen-Bin, Li, Lu-Jiao, Zhao, Di-Chen, Wang, Ou, Jiang, Yan, Xia, Wei-Bo, Li, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339480/
https://www.ncbi.nlm.nih.gov/pubmed/32627016
http://dx.doi.org/10.3892/mmr.2020.11227

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339480/
https://www.ncbi.nlm.nih.gov/pubmed/32627016
http://dx.doi.org/10.3892/mmr.2020.11227

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