Associated Papers
Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
Mura-Escorche G et al.
International Journal of Molecular Sciences, 2025
Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.
Naciri Bennani H et al.
Pediatric Nephrology (berlin, Germany), 2025
A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
Giusti F et al.
International Journal of Molecular Sciences, 2023
Inherited Renal Tubulopathies-Challenges and Controversies.
Iancu D et al.
Genes, 2020
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Fearn A et al.
Physiological Reports, 2018
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