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Article

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.

European journal of endocrinology - 10 Dec 2021

Cappellani Daniele, Brancatella Alessandro, Morganti Riccardo, Borsari Simona, Baldinotti Fulvia, Caligo Maria Adelaide, Kaufmann Martin, Jones Glenville, Marcocci Claudio, Cetani Filomena

Abstract excerpt

BACKGROUND AND OBJECTIVES: CYP24A1 encodes a 24-hydroxylase involved in vitamin D catabolism, whose loss-of-function results in vitamin D-dependent hypercalcemia. Since the identification of CYP24A1 variants as a cause of idiopathic infantile hypercalcemia, a large body of literature has emerged indicating heterogeneity in penetrance, symptoms, biochemistry, and treatments. The objectives of the present research...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34735369
DOI: 10.1530/EJE-21-0713

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