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Jackson-Lawler综合征1例

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出处 《中国麻风皮肤病杂志》 2008年第2期139-141,共3页 China Journal of Leprosy and Skin Diseases
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参考文献6

  • 1Richard B, Odom MD, William D, et al. Anderws' Diseases of the Skin. 9th ed. Beijing: Science Press,2001.718 - 721.
  • 2Connors JB, Rahil AK, Smith FJ, et al. Delayed- onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol 2001 ; 144(5) : 1058 - 1062.
  • 3Xiao SX, Feng YG, Ren XR, et al. A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed - onset pachyonychia congenita type 2. J Invest Dermatol 2004; 122 (4):892 - 895.
  • 4van Steensel MA, Smith FJ, Steijlen PM. A new type of pachyonychia congenita. Eur J Dennatol 2001 ; 11 (3) : 188 - 190.
  • 5Munro CS, Carter S, Bryce S, et al. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12 - q21. J Med Genet 1994;31(9) :675 - 678.
  • 6Smith 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. Hum Mol Genet 1998;7(7):1143- 1148.

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