Expanding the spectrum of genetic variants in the calcium‐sensing receptor ( CASR ) gene in hypercalcemic individuals

Objective Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominantly inherited disorder with overlapping biochemistry profile with primary hyperparathyroidism (PHPT), making the correct diagnosis a challenge. The objective of the study was to evaluate the results of the clinical work‐up of a large group of hypercalcemic individuals. Design Cross‐sectional study. Patients Patients undergoing clinical work‐up of hypercalcemia....