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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...
Autores principales: | Bletsis, Panagiotis, Metzger, Rosemarie, Nelson, J. Alex, Gasparini, Justin, Alsayed, Mahmoud, Milas, Mira |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association of Clinical Endocrinology
2022
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Materias: | |
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 |
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