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Article

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

Urolithiasis - 1 Jun 2017

Ferraro Pietro Manuel, Minucci Angelo, Primiano Aniello, De Paolis Elisa, Gervasoni Jacopo, Persichilli Silvia, Naticchia Alessandro, Capoluongo Ettore, Gambaro Giovanni

Abstract excerpt

Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous...

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Identifiers

PMID: 27639704
DOI: 10.1007/s00240-016-0923-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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