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Article

3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2023

Ball Nicole, Duncan Susan, Zhang Yueying, Payet Rocky, Piec Isabelle, Whittle Eloise, Tang Jonathan C Y, Schoenmakers Inez, Lopez Berenice, Chipchase Allison, Kumar Arun, Perry Leslie, Maxwell Heather, Ding Yiliang, Fraser William D, Green Darrell

Abstract excerpt

Loss-of-function mutations in the CYP24A1 protein-coding region causing reduced 25 hydroxyvitamin D (25OHD) and 1,25 dihydroxyvitamin D (1,25(OH)2 D) catabolism have been observed in some cases of infantile hypercalcemia type 1 (HCINF1), which can manifest as nephrocalcinosis, hypercalcemia and adult-onset hypercalciuria, and renal stone formation. Some cases present with apparent CYP24A1 phenotypes but do not...

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PMID: 36625425
DOI: 10.1002/jbmr.4769

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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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