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Article

Genetic Defect in<i>CYP24A1</i>, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia

24 Nov 2011

Abstract excerpt

CONTEXT: Idiopathic infantile hypercalcemia (IIH) is a disorder the genetic etiology and physiological basis of which are not well understood. OBJECTIVE: The objective of the study was to describe the underlying physiology and genetic cause of hypercalcemia in an infant with severe IIH and to extend these genetic findings into an additional cohort of children with IIH. DESIGN: This was an inpatient study of a...

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PMID: 22112808
DOI: 10.1210/jc.2011-1972

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