Article
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.
The Journal of clinical endocrinology and metabolism - 1 Apr 2005
Larsson Tobias, Yu Xijie, Davis Siobhan I, Draman Mohamad S, Mooney Sean D, Cullen Michael J, White Kenneth E
Abstract excerpt
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...
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