Concepedia

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Ilana Chefetz, Raoul Heller, Assimina Galli‐Τsinopoulou, Gabriele Richard, Bernd Wollnik, Margarita Indelman, Friederike Koerber, Orit Topaz, Eli Sprecher, Eckhard Schöenau

Human Genetics · 2005 · 138 citations · 15 references

DOI

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References

15

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

Kenneth E. White, W. Evans, Jeffery L.H. O'Riordan et al. · Nature Genetics · 2000 · 1.5K citations

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Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism

Takashi Shimada, Makoto Kakitani, Y. Yamazaki et al. · Journal of Clinical Investigation · 2004 · 1.4K citations · Full text

, , +17

Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism

Takashi Shimada, Makoto Kakitani, Y. Yamazaki et al. · Journal of Clinical Investigation · 2004 · 1.3K citations · Full text

, , +17

NOMOGRAM FOR DERIVATION OF RENAL THRESHOLD PHOSPHATE CONCENTRATION

R. J. Walton, O. L. M. Bijvoet · The Lancet · 1975 · 889 citations

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Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz, Daniel L. Shurman, Margarita Indelman et al. · Nature Genetics · 2004 · 595 citations · Full text

, , +11