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