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掌跖角化病及其致病基因研究进展 被引量：3

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摘要 掌跖角化病是一组遗传方式不同 ,临床表现多样化的遗传性皮肤病。针对掌跖角化病进行的连锁分析和基因定位揭示了掌跖角化病的多种表型与基因型之间的相互关系 ,为尚未解决的相关遗传性皮肤疾病的基因研究提供思路 ,并为掌跖角化病的基因诊断和治疗提供依据。
作者 殷鑫浈 张宝荣
机构地区 浙江大学医学院第二附属医院神经内科
出处 《国外医学（皮肤性病学分册）》 2004年第1期29-31,共3页 Foreign Medical Sciences(Section of Dermatology and Venereology)
关键词 掌跖角化病 致病基因 研究进展 遗传性皮肤病 诊断 治疗
分类号 R758.5 [医药卫生—皮肤病学与性病学]
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参考文献40

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同被引文献14

  • 1张虹,郭志飞,沈露芳,王佑辉.阿维A治疗弥漫性掌跖角化症合并指节垫1例[J].中国中西医结合皮肤性病学杂志,2005,4(1):49-50. 被引量：1
  • 2王文慧,李邻峰,张倩,杨绍敏,姜薇,王玉英,雷鹏程,陈学荣.Lambert型豪猪状鱼鳞病的光镜及电镜分析[J].中国麻风皮肤病杂志,2007,23(1):19-22. 被引量：2
  • 3Korge BP.Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.Invest Dermatol,1997,109(4):604-610.
  • 4Snoeckx,R.Mutation analysis of the GJB2 (connexin 26) gene in Egypt.Hum Mutat,2005,26:60-61.
  • 5Marie-Louise Bondson.Connexin 26 (GJB2) Mutations in Two Swedish Patients with Atypical Vohwinkel (Mutilating Keratoderma plus Deafness) and KID Syndrome Both Extensively Treated with Acitretin.Acta Derm Venereol,2006,86:503-5081.
  • 6Brown CW.A novel GJB2 (connexin 26) mutation,F142L,in a patient with unusual mucocutaneous findings and deafness.J Invest Dermatol,2003,121:1221-1223.
  • 7Maestrini E.A molecular defect in loricrin,the major component of the cornified cell envelope,underlies Vohwinkel's syndrome.Nat Genet,1996,13:70-77.
  • 8Rikkert L Snoeckx.Mutation Analysis of the GJB2 (Connexin 26) Gene in Egypt.Human Mutation,2005,online.
  • 9B Drera.De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome,loricrin keratoderma.Clin Genet,2008,73:85-88.
  • 10Armstrong DK.A novel insertional mutation in loricrin in Vohwinkel's keratoderma.J Invest Dermatol 1998,111:702-4.

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国外医学（皮肤性病学分册）
2004年 第1期

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