Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis
Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, Sprecher E, et al. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab 2011;29:621-5.
Klotho converts canonical FGF receptor into a specific receptor for FGF23
Urakawa I, Yamazaki Y, Shimada T, Iijima K, Hasegawa H, Okawa K, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 2006;444:770-4.
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
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.
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations
Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A 2010;152A:896-903.
Chronic recurrent multifocal osteomyelitis and tumoral calcinosis - Is there an association?
[in German]
Maus U, Ihme N, Schroeder S, Andereya S, Ohnsorge JA, Hermanns B, et al. Chronic recurrent multifocal osteomyelitis and tumoral calcinosis - is there an association? [in German] Klin Padiatr 2007;219:277-81.