A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.

@article{Larsson2005ANR,
  title={A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.},
  author={Tobias Larsson and Xijie Yu and Siobhan I. Davis and Mohamad S Draman and Sean D. Mooney and Michael J Cullen and Kenneth E. White},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2005},
  volume={90 4},
  pages={2424-7}
}
Gain-of-function mutations in fibroblast growth factor-23 (FGF23) are responsible for autosomal dominant hypophosphatemic rickets, a disorder of isolated renal phosphate wasting. Patients with the disorder display hypophosphatemia with normocalcemia as well as inappropriately normal 1,25-dihydroxyvitamin D [1,25(OH)2D3] concentrations. Reciprocally tumoral calcinosis (TC) patients are often hyperphosphatemic with inappropriately normal or elevated serum 1,25(OH)2D3 levels and have ectopic and… CONTINUE READING

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