Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood
Background and aimsVitamin D 24-hydroxylase is an enzyme encoded by the CYP24A1 gene, which inhibits the activation of vitamin D to form inactive metabolites. More than 20 currently described pathogenic variants (usually biallelic) of this gene are responsible for idiopathic infantile hypercalcemia...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2022.1020096/full |