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Article

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.

Frontiers in endocrinology - 1 Jan 2021

Molin Arnaud, Lemoine Sandrine, Kaufmann Martin, Breton Pierre, Nowoczyn Marie, Ballandonne Céline, Coudray Nadia, Mittre Hervé, Richard Nicolas, Ryckwaert Amélie, Lavillaureix Alinoe, Jones Glenville, Bacchetta Justine, Kottler Marie-Laure

Abstract excerpt

Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type 1 and 2, illustrating links between vitamin D and phosphate metabolism. Patients may present with hypercalciuria and alternate between chronic phases with normal serum calcium but inappropriately high 1,25-(OH)2D and appropriately low PTH, and acute phases with...

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Identifiers

PMID: 34721296
DOI: 10.3389/fendo.2021.736240
PMCID: PMC8548709

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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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