SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

@article{Bergwitz2006SLC34A3MI,
  title={SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.},
  author={Clemens Bergwitz and Nicole M. Roslin and Martin Tieder and J. Concepci{\'o}n Loredo-Osti and Murat Bastepe and Hilal S Abu-Zahra and Danielle Frappier and Kelly Burkett and Thomas O. Carpenter and Donald Anderson and Mich{\`e}le Garab{\'e}dian and I. B{\"u}lent Sermet and Tatsushi Fujiwara and Kenneth Morgan and Harriet S. Tenenhouse and Harald Jűppner},
  journal={American journal of human genetics},
  year={2006},
  volume={78 2},
  pages={179-92}
}
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a large consanguineous Bedouin kindred. HHRH is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histological evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with… CONTINUE READING

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