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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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| Udgivet i: | Mol Med Rep |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
D.A. Spandidos
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7339480/ https://ncbi.nlm.nih.gov/pubmed/32627016 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11227 |
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