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PSAT204 Hypoparathyroidism due to a Novel Mutation as the Initial Presentation of Non-classical Autoimmune Polyglandular Syndrome Type 1
BACKGROUND: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disorder, with an estimated worldwide prevalence of 1 in 80-100,000, resulting from a mutation in the autoimmune regulator (AIRE) gene responsible for immune tolerance. It is characterized by the presence of 2 or 3 cardinal disor...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624966/ http://dx.doi.org/10.1210/jendso/bvac150.434 |