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

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

Abstract 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 t...

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Bibliographic Details
Main Authors: François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, Dominique Prié
Format: Article
Language:English
Published: Nature Portfolio 2023-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-25995-5

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https://doi.org/10.1038/s41598-022-25995-5

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