Article

Risk of Nephrolithiasis in adults heterozygous for<i>SLC34A3</i>Ser192Leu in an unselected health system cohort

2023-01-22

Abstract excerpt

Homozygous or compound heterozygous mutations in solute carrier family 34, member 3 ( SLC34A3 ) cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Patients heterozygous for SLC34A3 pathogenic variants may be at increased risk for renal calcification but reports have been mostly limited to family members of patients with autosomal recessive HHRH. To determine the phenotypic spectrum of SLC34A3 Se...

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Literature Corpus work: 5720e4c4-73ea-56d2-851a-0cc18056fc80
DOI: 10.1101/2023.01.21.23284856

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