Neonatal Severe Primary Hyperparathyroidism - CISMeF
Neonatal Severe Primary HyperparathyroidismNCIt concept
Preferred Label : Neonatal Severe Primary Hyperparathyroidism;
NCIt definition : A genetic condition caused by loss-of-function mutation(s) in the CASR gene, encoding
extracellular calcium-sensing receptor. It is characterized by severe hypercalcemia
and metabolic bone disease occurring in the first six months of life.;