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X连锁网状色素异常症1例 被引量:4

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摘要 X连锁网状色素异常症(X—linked reticulate pigmentary disorder)是一种病因不清的遗传性色素异常性疾病,临床极为罕见。我们在临床诊断1例X连锁网状色素异常症患者,报道如下。
出处 《中国麻风皮肤病杂志》 2013年第1期42-43,共2页 China Journal of Leprosy and Skin Diseases
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参考文献5

  • 1Anderson RC,Zinn AR,Kim J. X-linked reticulate pigmentary disorder with systemic manifestations:report of a third family and literature review[J].Pediatric Dermatology,2005,(02):122-126.
  • 2Ades LC,Rogers M,Sillence DO. An X-linked reticulate pigmentary disorder with systemic manifestations:report of a second family[J].Pediatric Dermatology,1993,(04):344-351.
  • 3Kim BS,Seo SH,Jung HD. X-Linked reticulate pigmentary disorder in a female patient[J].International Journal of Dermatology,2010,(04):421-425.
  • 4林志淼,杨勇.X连锁网状色素异常症1例[J].临床皮肤科杂志,2011,40(10):634-635. 被引量:5
  • 5Jaeckle SL,Xing C,Barnes RB. Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes[J].Human Genetics,2008,(05):469-476.doi:10.1007/s00439-008-0498-4.

二级参考文献4

  • 1Jaeckle Santos LJ, Xing C, Barnes RB, et al. Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes[J]. Hum Genet, 2008, 123(5): 469-476.
  • 2Fernandez-Guarino M, Torrelo A, Fernandez-Lorente M, et al. X-linked reticulate pigmentary disorder: report of a new family [J]. Eur J Dermatol, 2008, 18(1): 102-103.
  • 3Fraile G, Norman F, Reguero ME, et al. Cryptogenic muhifocal ulcerous stenosing enteritis (CMUSE) in a man with a diagnosis of X-linked reticulate pigmentary disorder (PDR)[J]. Scand J Gastroenterol, 2008, 43(4): 506-510.
  • 4Anderson RC, Zinn AR, Kim J, et al. X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review[J]. Pediatr Dermatol, 2005, 22 (2): 122-126.

共引文献4

同被引文献18

  • 1李莉,宋国维,杜军保,刘吉荣,徐放生,刘晓雁,张霆.色素失禁症NEMOΔ4~10基因片段缺失的初步研究[J].中华儿科杂志,2005,43(2):89-92. 被引量:11
  • 2Jaeckle Santos L.I, Xing C, Barnes RB, et al. Refined mapping of X - linked reticulate pigmentary disorder and sequencing of candidate genes[J]. Hmn Genet, 2008, 123: 469-476.
  • 3Fernandez-Guarino M, Torrelo A, Fernandez-Lorente M, et al. X- linked reticulate pigmentary disorder: report of a new family [J]. Eur J Dermatol, 2008, 18: 102-103.
  • 4Fraile G, Norman F, Reguero ME, et al. Cryptogenic muhifocal ulcerous stenosing enteritis (CMUSE) in a man with a diagnosis of X-linked reticulate pigmentary disorder (PDR) [J]. Scand J Gastroenterol, 2008, 43:506-510.
  • 5Kim BS, Seo SH, Jung HD, et al. X-Linked reticulate pigmentary disorder in a female patient[J]. Int J Dermatol, 2010, 49:421-425.
  • 6Partington MW, Marriott PJ, Prenticd RSA, et al. Familial cutaneous amyloidosis with systemic manifestations in males [J]. Am J Med Genet 1981, 10: 65-75.
  • 7Gedeon AK, Mulley JC, Kozman H, et al. Localization of the gene for X-kinked reticulate pigmentary disorder with systemic manifesta- tions (RPD), previously known as X-linked cutaneous amyloidosis [J]. Am J Med Genet 1994, 52:75-78.
  • 8Partington MW, Prentice RS. X-linked cutaneous amyloidosis: further clinical and pathological observations [J]. Am J Med Genet, 1989, 32:115-119.
  • 9Lorenz B, Gampe E. Analyse yon 180 Patienten mit sensorischem Defektnystagmus (SDN) und kongenitalem idiopathischem Nystagmus (CIN)[J]. Klin Monatsbl Augenheilkd, 2001,218:3-12.
  • 10Cortese K, Giordano F, Surace EM, et al. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size [J]. Invest Ophthalmol Vis Sci, 2005, 46:4358-4364.

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