Article
A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.
The Journal of clinical endocrinology and metabolism - 1 Oct 2005
Araya Kaori, Fukumoto Seiji, Backenroth Rebecca, Takeuchi Yasuhiro, Nakayama Kounosuke, Ito Nobuaki, Yoshii Nozomi, Yamazaki Yuji, Yamashita Takeyoshi, Silver Justin, Igarashi Takashi, Fujita Toshiro
Abstract excerpt
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. DESIGN:...
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