Sadiaover 1 year ago

Pathophysiology of Familial hypocalcemia hypercalcemia

The pathophysiology of familial hypocalciuric hypercalcemia (FHH) consists of an inactivating missense mutation in the calcium-sensing receptor (CaSR) located on the short arm of the chromosome 3 (FBHH3q). The mutation of CaSR is associated with two inherited conditions FHH and neonatal hyperparathyroidism