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弥漫性掌跖角化病伴关节垫一家系20例 被引量:1

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出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2006年第5期593-593,共1页 Chinese Journal of Medical Genetics
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参考文献5

  • 1张咸宁,毛薇,何新辉,赖征.表皮松解性掌跖角化症的分子遗传学研究进展[J].中华医学遗传学杂志,2004,21(4):372-375. 被引量:11
  • 2LU Y, Guo C, Liu Q, et al. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am J Med Genet,2003,120A: 345-349.
  • 3Hamada T, Ishii N, Karashima T, et al. The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses. J Dermatol, 2005, 32:500-502.
  • 4Nogita T, Nakagawa H, Ishibashi Y. Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints. Br J Dermatol, 1991,125:496.
  • 5Kuster W, Reis A, Hennies HC. Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's origina 1 family and identification of a novel keratin 9 mutation. Arch Dermatol Res, 2002, 294:268-272.

二级参考文献38

  • 1Yang MH, Lee JY, Lin JH, et al. De novo mutation of keratin 9 gene in two Taiwan Residents patients with epidermolytic palmoplantar keratoderma. J Formos Med Assoc, 2003, 102:492-496.
  • 2Szalai S, Szalai C, Becker K, et al. Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. Pediatr Dermatol, 1999, 16:430-435.
  • 3Wennerstrand LM, Klingberg MH, Hofer PA, et al. A de novo mutation in the keratin 9 gene in a family with epidermolytic palmoplantar keratoderma from northern Sweden. Acta Derm Venereol, 2003, 83:135-137.
  • 4He XH, Zhang XN, Mao W, et al. A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. Br J Dermatol, 2004,150:647-651.
  • 5Coleman CM, Munro CS, Smith FJ, et al. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. Br J Dermatol, 1999, 140:486-490.
  • 6Hatsell SJ, Eady RA, Wennerstrand L, et al. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. J Invest Dermatol, 2001,116:606-609.
  • 7Zhang XN, Chen HP, Xu LR, et al. Diffuse palmoplantar keratoderma: a family with 26 cases in six generations. Chin J Med Genet, 2002,19:140.[张咸宁,陈衡平,徐来荣,等.弥漫性掌跖角化症一家系六代二十六例.中华医学遗传学杂志,
  • 8Kelsell DP, Stevens HP. The palmoplantar keratodermas:much more than palms and soles. Mol Med Today, 1999, 5:107-113.
  • 9Blanchet-Bardon C, Nazzaro V, Chevrant-Breton J, et al. Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. Br J Dermatol, 1987, 117:363-370.
  • 10Ellis A, Field JK, Field EA, et al. Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations. Eur J Cancer B Oral Oncol, 1994, 30B:102-112.

共引文献10

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引证文献1

  • 1高微,杨磊,黄馨仪,陈溪,朱文静,金仙花,王申卉,张钰,范婷婷,夏建新.弥漫性掌跖角皮症1例[J].中国实验诊断学,2018,22(4):674-675.

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