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A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH

Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion. It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) g...

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Detalles Bibliográficos
Autores principales: Majumdar, Sachin K., Jacob, Tess, Bale, Allen, Bailey, Allison, Kwon, Jeffrey, Hughes, Terence, Barbieri, Andrea L., Laskin, William, Cohen, Paul, Carling, Tobias John Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555459/
https://www.ncbi.nlm.nih.gov/pubmed/33062349
http://dx.doi.org/10.1155/2020/8752610