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24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D-mediated Hypercalcemia Disorders.

Sarah M AzerLisa E VaughanPeter J TebbenDavid J Sas
Published in: Journal of the Endocrine Society (2021)
Patients with 24HD had clinical and laboratory findings that differed from other vitamin D-mediated hypercalcemia disorders. 24HD should be suspected in patients with hypercalcemia who present at younger age, have positive family history, and have nephrocalcinosis.
Keyphrases
  • pulmonary embolism
  • gene expression