• 1
    Melhem RE, Najjar SS, Khachadurian AK 1970 Cortical hyperostosis with hyperphosphatemia: A new syndrome? J Pediatr 77: 986990.
  • 2
    Mikati MA, Melhem RE, Najjar SS 1981 The syndrome of hyperostosis and hyperphosphatemia. J Pediatr 99: 900904.
  • 3
    Wilson MP, Lindsley CB, Warady BA, Johnson JA 1989 Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis. J Pediatr 114: 10101013.
  • 4
    Jaeken J 2003 Congenital disorders of glycosylation (CDG): It's all in it! J Inherit Metab Dis 26: 99118.
  • 5
    Marquardt T, Denecke J 2003 Congenital disorders of glycosylation: Review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162: 359379.
  • 6
    Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E 2004 Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, causes familial tumoral calcinosis. Nat Genet 36: 579581.
  • 7
    Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E 2005 Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis–hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med 83: 3338.
  • 8
    The ADHR consortium 2000 Autosomal dominant hypophosphaetemic rickets is associated with mutations in FGF-23. Nat Genet 26: 345348.
  • 9
    Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T 2001 Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 98: 65006505.
  • 10
    Rowe PS, de Zoysa PA, Dong R, Wang R, White KE, Econs MJ, Oudet CL 2000 MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 67: 5468.
  • 11
    Berndt T, Craig TA, Bowe AE, Vassiliadis J, Reczek D, Finnegan R, Jan De Beur SM, Schiavi SC, Kumar R 2003 Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 112: 785794.
  • 12
    The HYP consortium 1995 A gene (PHEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11: 130136.
  • 13
    Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S 2002 Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87: 49574960.
  • 14
    Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imani Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Juppner H 2003 Fibroblast growth factor 23 in osteogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 348: 16561663.
  • 15
    Bowe AE, Finnegan R, de Jan Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC 2001 FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun 284: 977981.
  • 16
    Guo R, Liu S, Spurney RF, Quarles LD 2001 Analysis of recombinant Phex: An endopeptidase in search of a substrate. Am J Physiol Endocrinol Metab 281: E837E847.
  • 17
    Shimada T, Muto T, Urakawa I, Yoneya T, Yamazaki Y, Okawa K, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T 2002 Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 143: 31793182.
  • 18
    Larsson T, Nisbeth U, Ljunggren O, Juppner H, Jonsson KB 2003 Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers. Kidney Int 64: 22722279.
  • 19
    Shimada T, Kakitani M, Yamazaki Y, Hasegawa H, Takeuchi Y, Fujita T, Fukumoto S, Tomizuka K, Yamashita T 2004 Targeted ablation of Fgf-23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J Clin Invest 113: 561568.
  • 20
    Sitara D, Razzaque MS, Hesse M, Yoganathan S, Taguchi T, Erben RG, Juppner H, Lanske B 2004 Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol 23: 421432.
  • 21
    Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T 2004 FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 19: 429435.
  • 22
    Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B 2005 An FGF-23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 14: 385390.
  • 23
    Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE 2005 A novel recessive mutation in fibroblast growth factor 23 causes familial tumoral calcinosis. J Clin Endocrinol Metab 90: 24242427.
  • 24
    Araya K, Fukumoto S, Backenroth R, Takeuchi Y, Nakayama K, Ito N, Yoshii N, Yamazaki Y, Yamashita T, Silver J, Igarashi T, Fujita T 2005 A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. J Clin Endocrinol Metab 90: 55235527.
  • 25
    Kato K, Jeanneau C, Tarp MA, Benet-Pages A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Calusen H 2006 Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. J Biol Chem 281: 1837018377.