- Barbieri AM, Filopanti M, Bua G, Beck-peccoz P. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. J Hum Genet 2007; 52: 464–8
- Benet-pages A, Orlik P, Strom TM, Lorenz-depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2005; 14: 385–90
- Campagnoli MF, Pucci A, Garelli E, Carando A, Defilippi C, Lala R, et al. Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. J Clin Pathol 2006; 59: 440–2
- Clarke E, Swischuk LE, Hayden CKJR. Tumoral calcinosis, diaphysitis, and hyperphosphatemia. Radiology 1984; 151: 643–6
- Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, et al. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med 2005; 83: 33–8
- Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, Urakawa I, et al. Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Miner Res 2007; 22: 235–42
- Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, et al. The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis. J Clin Endocrinol Metabol 2006; 91: 4037–42
- Garringer HJ, Mortazavi SM, Esteghamat F, Malekpour M, Boztepe H, Tanakol R, et al. Two novel GALNT3 mutations in familial tumoral calcinosis. Am J Med Genet 2007; 143: 2390–6
- Ichikawa S, Lyles KW, Econs MJ. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metabol 2005; 90: 2420–3
- Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, et al. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metabol 2006; 91: 4472–5
- Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, et al. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metabol 2007; 92: 1943–7
- Kato K, Jeanneau C, Tarp MA, Benet-pages A, Lorenz-depiereux B, Bennett EP, et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 2006; 281: 18370–7
- Kaufman RA, Thrall JH, Keyes JW, Jr., Brown ML, Zakem JF. False negative bone scans in neuroblastoma metastatic to the ends of long bones. Ajr 1978; 130: 131–5
- Kobayashi D, Satsuma S, Kamegaya M, Haga N, Shimomura S, Fujii T, et al. Musculoskeletal conditions of acute leukemia and malignant lymphoma in children. J Ped Orthoped 2005; 14: 156–61
- Laor TJD, Oestreich AE. Musculoskeletal system 3rd ed. Lippincott-Raven: Philadelphia 1998; 372–415
- Liu S, Quarles LD. How fibroblast growth factor 23 works. J Am Soc Nephrol 2007; 18: 1637–47
- Metzker A, Eisenstein B, Oren J, Samuel R. Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review. Eur J Peiatrd 1988; 147: 128–32
- Mikati MA, Melhem RE, Najjar SS. The syndrome of hyperostosis and hyperphosphatemia. J Pediatr 1981; 99: 900–4
- Narchi H. Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. Pediatrics 1997; 99: 745–8
- Specktor P, Cooper JG, Indelman M, Sprecher E. Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet 2006; 51: 487–90
- Talab YA, Mallouh A. Hyperostosis with hyperphosphatemia: a case report and review of the literature. J Ped Orthop 1988; 8: 338–41
- Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004; 36: 579–81
- Topaz O, Bergman R, Mandel U, Maor G, Goldberg R, Richard G, et al. Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. Am J Dermatopathol 2005; 27: 211–5
Acta Orthopaedica
Volume 80, 2009 - Issue 1