CYP24A1 gene mutations cause hypercalcemia in man with low PTH
Mutations in the CYP24A1 gene were identified as a cause of a 43-year-old man’s idiopathic infantile hypercalcemia (IIH), a condition marked by higher than normal blood calcium levels. The man also had low levels of parathyroid hormone (PTH), a sign of hypoparathyroidism, and normal vitamin D — unusual for…