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先天性掌跖角化病一家系报告

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出处 《内蒙古医学杂志》 2010年第8期F0003-F0003,F0004,共2页 Inner Mongolia Medical Journal
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  • 1Schonfeld PH. The pachyonychia congenita syndrome[J]. Acta Derm Venereol, 1980, 60(1): 45-49.
  • 2Paller AS, Moore JA, Scher R. Pachyonychia congenita tarda. A late-onset form of pachyonychia congenital [J]. Arch Dermatol,1991, 127(5): 701-703.
  • 3Feinstein A, Friedman J, Schewach-Millet M. Pachyonychia congenital[J]. J Am Acad Dermatol, 1988, 19(4): 705-711.
  • 4Smith FJ, Jonkman MF, van Goor H, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2[J]. Hum Mol Genet, 1998, 7(7):1143-1148.
  • 5Terrinoni A, Smith FJ, Didona B, et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenital [J]. J Invest Dermatol, 2001,117(6): 1391-1396.
  • 6Connors JB, Rahil AK, Smith FJ, et al. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16[J]. Br J Dermatol, 2001, 144(5):1058-1062.
  • 7Smith FJ, Fisher MP, Healy E, et al. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma[J]. Exp Dermatol, 2000, 9(3):170-177.
  • 8McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenital[J]. Nat Genet, 1995,9(3): 273-278.
  • 9Hoting E, Wassilew SW. Systemic retinoid therapy with etretinate in pachyonychia congenita[J]. Hautarzt, 1985, 36(9): 526-528.
  • 10Tidman M J, Wells RS. Control of plantar blisters in pachyonychia congenita with topical aluminium chloride[J]. Br J Dermatol,1988, 118(3): 451-452.

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