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Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia

CONTEXT: In the clinic it is important to differentiate primary hyperparathyroidism (PHPT) from the more benign, inherited disorder, familial hypocalciuric hypercalcemia (FHH). Since the conditions may sometimes overlap biochemically, identification of calcium-sensing receptor (CASR) gene variants c...

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Detalles Bibliográficos
Autores principales: Mullin, Benjamin H, Pavlos, Nathan J, Brown, Suzanne J, Walsh, John P, McKellar, Ross A, Wilson, Scott G, Ward, Bryan K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962451/
https://www.ncbi.nlm.nih.gov/pubmed/35356007
http://dx.doi.org/10.1210/jendso/bvac025