Article
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Clinical endocrinology - 1 Mar 2026
Eltan Mehmet, Alavanda Ceren, Kurt İlknur, Yavas Abali Zehra, Abali Saygin, Helvacioglu Didem, Guran Tulay, Bereket Abdullah, Ata Pinar, Turan Serap
Abstract excerpt
BACKGROUND: Inactivating pathogenic variants (PVs) in CYP24A1 (MIM*126065), which encodes the enzyme vitamin D-24-hydroxylase, were initially identified in patients with infantile hypercalcemia (IH). Although CYP24A1 PVs were originally associated with a recessive inheritance pattern, it is now understood that heterozygous (monoallelic) variants may also lead to milder phenotypes. SUBJECTS AND METHODS: Eight...
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