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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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Detalhes bibliográficos
Publicado no:Case Rep Endocrinol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Hindawi 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7555459/
https://ncbi.nlm.nih.gov/pubmed/33062349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/8752610
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