Articles with "slc34a3 variants" as a keyword



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Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH)

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Published in 2022 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4630

Abstract: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23‐independent disease caused by biallelic variants in the solute carrier family 34‐member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis… read more here.

Keywords: hypercalciuria hhrh; slc34a3 variants; hereditary hypophosphatemic; rickets hypercalciuria ... See more keywords