A Novel Missense CASR Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia

BACKGROUND/OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) is an uncommon cause of hypercalcemia; however, it is important to consider and rule out in patients with suspected primary hyperparathyroidism (PHPT), ideally, before proceeding with surgery. Herein, we present a patient where this pr...

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Detalles Bibliográficos
Autores principales: Bletsis, Panagiotis, Metzger, Rosemarie, Nelson, J. Alex, Gasparini, Justin, Alsayed, Mahmoud, Milas, Mira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508602/
https://www.ncbi.nlm.nih.gov/pubmed/36189134
http://dx.doi.org/10.1016/j.aace.2022.05.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508602/
https://www.ncbi.nlm.nih.gov/pubmed/36189134
http://dx.doi.org/10.1016/j.aace.2022.05.002

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