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Autor:
Julian Stürznickel, Fiona Heider, Alena Delsmann, Markus Gödel, Johannes Grünhagen, Tobias B Huber, Uwe Kornak, Michael Amling, Ralf Oheim
Publikováno v:
Journal of Bone and Mineral Research. 37:1580-1591
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 incr