" /> Neonatal Severe Primary Hyperparathyroidism - CISMeF





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.;

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02/05/2025


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