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Article

Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.

Orphanet journal of rare diseases - 19 Mar 2024

Wang Qiao, Chen Jia-Jia, Wei Li-Ya, Ding Yuan, Liu Min, Li Wen-Jing, Su Chang, Gong Chun-Xiu

Abstract excerpt

OBJECTIVE: Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH. In this study, the clinical manifestations and molecular aspects of six new Chinese patients were investigated. METHODS: The clinical manifestations and laboratory study of six patients with idiopathic infantile hypercalcemia were analyzed...

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Source

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Identifiers

PMID: 38504242
DOI: 10.1186/s13023-024-03135-8
PMCID: PMC10953066

Genes

CYP24A1
SLC34A1
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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