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MON-364 Autoimmune Polyendocrinopathy Syndrome Type I Presented with Adrenal Insuffiency and Nail Fungal Infection Confirmed by Homozygous Pathogenic Variant in the AIRE Gene
Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder. APS-1 diagnosed when patient have at least two of the three major conditions that result from this syndrome: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency....
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Endocrine Society
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551140/ http://dx.doi.org/10.1210/js.2019-MON-364 |