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

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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Bibliographic Details
Main Authors: Panagiotis Bletsis, MD, Rosemarie Metzger, MD, J. Alex Nelson, DO, Justin Gasparini, MS, Mahmoud Alsayed, MD, Mira Milas, MD
Format: Article
Language:English
Published: Elsevier 2022-09-01
Series:AACE Clinical Case Reports
Subjects:
familial hypocalciuric hypercalcemia (FHH)
primary hyperparathyroidism (PHPT)
genetic testing
Sherloc classification system
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060522000372

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http://www.sciencedirect.com/science/article/pii/S2376060522000372

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