A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.

Context: Tumoral calcinosis is a disease characterized by ectopic calcification and hyperphosphatemia due to enhanced renal tubular phosphate reabsorption. Fibroblast growth factor (FGF)23 was identified as a responsible factor in hypophosphatemic diseases caused by renal phosphate leak.

Objective: The objective of the study was to analyze the involvement of FGF23 in the development of tumoral calcinosis.