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SAT-506 Identification of a Mutation in AP2S1 Causing Familial Hypocalciuric Hypercalcemia Type 3 in a Patient with Unknown Family History of the Disease
Background: Calcium homeostasis is mediated by the CaSR on the parathyroid gland and kidney. Mutations in the CaSR or downstream signaling proteins can lead to dysregulation in serum calcium levels. It is estimated that AP2S1 missense mutations may be the underlying cause of 20% of cases of hypocalc...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552130/ http://dx.doi.org/10.1210/js.2019-SAT-506 |