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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Ichikawa S, et al. Among authors: sorenson ah. Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337. Am J Med Genet A. 2010. PMID: 20358599 Free PMC article.
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ. Ichikawa S, et al. Among authors: sorenson ah. J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):318-9. J Musculoskelet Neuronal Interact. 2007. PMID: 18094491 Free article. No abstract available.