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先天性角化不良一例

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摘要 患者男.19岁,就诊前6年右上肢皮肤出现色素异常,呈细网状灰棕色色素沉着,逐渐扩大.渐延及脸面、胸、背和四肢.毛细血管扩张明显发病3年后指甲板萎缩、变尖、弯曲并脱落。1年内其他指甲板和趾甲板也开始脱落。
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2007年第6期346-346,共1页 Chinese Journal of Dermatology
基金 广东省自然科学基金(031655)
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参考文献4

  • 1Vulliamy T,Marrone A,Goldman F,et al.The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.Nature,2001,413(6854): 432-435.
  • 2王建琴,王汉平,吴玉才,谢健晋,许志萍,许剑荣,孙广政,方瑞华,毛平,曾仁山.先天性角化不良的一个新的基因突变[J].中华皮肤科杂志,2006,39(6):305-307. 被引量:6
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二级参考文献8

  • 1丁颖果,姜薇,杨勇,卜定方,陈喜雪,涂平,朱学骏.一个先天性角化不良家系中DKC1基因突变的检测[J].中华皮肤科杂志,2004,37(6):332-334. 被引量:4
  • 2Dokal I . Dyskeratosis congenital in all its forms. Br J Haematol,2000, 110: 768-779.
  • 3Heiss NS, Knight SW, Vulliamy T J, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet, 1998, 19: 32-38.
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  • 6Knight SW, Heiss NS; Vulliamy. T J, et al. X-Linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet, 1999, 65: 50-58.
  • 7Marrone A, Dokal I. Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. Expert Rev Mol Med,2004, 6: 1-23.
  • 8王建琴,许剑荣,孙广政,刘衍彬,唐绍生.先天性角化不良2例[J].中国皮肤性病学杂志,2002,16(4):260-262. 被引量:5

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