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Article

Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.

Scientific reports - 3 Jan 2023

Brazier François, Courbebaisse Marie, David Amandine, Bergerat David, Leroy Christine, Lindner Marta, Maruani Gérard, Saint Jacques Camille, Letavernier Emmanuel, Hureaux Marguerite, Vargas-Poussou Rosa, Prié Dominique

Abstract excerpt

Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3 exhibit a different phenotype compared to humans, without urinary phosphate leakage. The mechanisms by which SLC34A3 variants disrupt phosphate/calcium metabolism...

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Identifiers

PMID: 36596813
DOI: 10.1038/s41598-022-25995-5
PMCID: PMC9810644

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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