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Werner综合征 被引量:2

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摘要 Werner综合征是一种常染色体隐性遗传性疾病,青春期后开始老化并进行性加重,以短身材、老人外貌、白内障、关节挛缩、提前停经及各种皮肤改变为特征。患者常在20岁左右发病,30岁后广泛出现各种症状和体征,伴发肿瘤,40多岁死亡。迄今为止,全世界约报告1100例,引起了医学家的广泛关注,并指出揭示Werner综合征的发病机理和病理生理过程,对研究人类医学遗传学、肿瘤发生以及人类老化和正常衰老都具有十分重要的意义。
出处 《国外医学(皮肤性病学分册)》 1999年第5期270-273,共4页 Foreign Medical Sciences(Section of Dermatology and Venereology)
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  • 1高春芳,陈敏,毕新岭,顾军.Werner综合征一例[J].中华皮肤科杂志,2005,38(3):188-188. 被引量:3
  • 2Ishikawa Y, Sugano H, Matsumoto T, et al. Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. Cancer, 1999, 85 : 1345-1352.
  • 3Goto M, Rubenstein M, Weber J, et al. Genetic linkage of Werner's syndrome to five markers on chromosome 8. Nature, 1992, 355 : 735-788.
  • 4Ahn B, Harrigan JA, Indig FE, et al. Regulation of WRN helicase activity in human base excision repair. J Biol Chem, 2004,279 : 53465 -53474.
  • 5Huang S, Lee L, Hanson NB,et al. The spectrum of WRN mutations in Werner syndrome patients. Hum Mutat, 2006, 27: 558-567.
  • 6Nakamura Y, Shimizu T, Ohigashi Y, et al. Meningioma arising in Werner syndrome confirmed by mutation analysis. J Clin Neurosci ,2005,12:503-506.
  • 7Marton E, Bonaldi L, Busato S, et al. Atypical meningioma in Werner syndrome: a case report. J Neuro Oncol, 2006,79: 181-185.
  • 8Kawauchi M, Gibo H, Kobayashi S, et al. Werner's syndrome associated with meningioma: case report. No Shinkei Geka, 1988, 16 : 189-194.
  • 9Kobayashi S, Gibo H, Sugita K, et al. Werner's syndrome associated with meningioma. Neurosurgery, !980, 7 : 517-520.
  • 10Morita K, Nishigori C, Sasaki MS, et al. Werner's syndromechromosomeanalyses of cultured fibroblasts and mitogen stimulated lymphocytes. Br J Dermatol, 1997, 136 : 620-623.

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