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Article

Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.

Bone - 1 Dec 2015

Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman J M, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R

Abstract excerpt

BACKGROUND: Bi-allelic CYP24A1 mutations can cause idiopathic infantile hypercalcemia (IIH), adult-onset nephrocalcinosis, and possibly bone metabolism disturbances. It is currently unclear if heterozygous carriers experience clinical problems or biochemical abnormalities. Our objective is to gain insight in the biochemical profile and health problems in CYP24A1 heterozygotes. STUDY DESIGN: Cross-sectional...

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Source

Identifiers

PMID: 26117226
DOI: 10.1016/j.bone.2015.06.018

Genes

IHH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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