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SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant
Background: The calcium-sensing receptor (CaSR) mediates PTH production and renal calcium excretion by sensing circulating calcium levels. Activating mutations in the CaSR can cause a spectrum of phenotypes from overt hypoparathyroidism to isolated hypercalciuria. Inactivating mutations of the CaSR...
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| Publicado en: | J Endocr Soc |
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| Autores principales: | , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7208580/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1446 |
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