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An Uncommon Cause of Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a Young Woman
Background: Mutations of the calcium-sensing receptor (CaSR) gene resolve in a change of calcium homeostasis with autosomal dominant and/or sporadic hypocalcemia with hypercalciuria (ADH) (gain-of-function) and familial hypocalciuric hypercalcemia (loss-of-function-mutation). Additionally, genetic m...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266150/ http://dx.doi.org/10.1210/jendso/bvab048.366 |