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角膜炎、鱼鳞病、耳聋综合征1例 被引量:1

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出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2005年第11期754-754,共1页 Journal of Clinical Dermatology
基金 广东省自然科学基金资助项目(04004285)
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同被引文献15

  • 1张锡宝,曾抗,温炬,吴政光,罗权,刘利萍,王艳芳,徐晓,张振平,廖元兴.角膜炎、鱼鳞病、耳聋综合征一例国内首报[J].中华皮肤科杂志,2004,37(7):387-387. 被引量:22
  • 2张锡宝,魏生才,王艳芳,李常兴,徐晓,李季,何玉清,罗权.角膜炎鱼鳞病耳聋综合征的GJB2基因突变的研究[J].食品与药品,2005,7(11A):39-42. 被引量:1
  • 3Haruna K, Suga Y, Oizumi A, et al. Severe form of keratitisichthyosis-deafness (KID) syndrome associated with septic complications[J]. J Dermatol, 2010, 37(7): 680-682.
  • 4Herrod HG. Chronic mucocutaneous candidiasis in childhood and complications of non=Candida infection: a report of the pediatric immunodeficiency collaborative study group[J]. J Pediatr, 1990, 116(3): 377-382.
  • 5Kanwar AJ, Ghosh S, Handa S, et al. Keratitis, ichthyosis, deafness (KID) syndrome-the first report from India [J]. Clin Exp Dermatol, 1993, 18(4): 386-388.
  • 6Grob J], Breton A, Bonafe JL, et al. Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas[J]. Arch Dermatol, 1987, 123 (6): 777-782.
  • 7van Steensel MA, van Geel M, Nahuys M, et al. A novel connexin 26 mutation in a patient diagnosed with keratitisichthyosis-deafness syndrome[J]. J Invest Dermatol, 2002, 118 (4): 724-727.
  • 8Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin -26 cause the ectodermal dysplasia keratitis -ichthyosis -deafness syndrome [J]. Am J Hum Genet, 2002, 70(5): 1341-1348.
  • 9Mese G, Richard G, White TW. Gap junctions: basic structure and function[J]. J Invest Dennatol, 2007, 127(11): 2516-2524.
  • 10Arita K, Akiyama M, Aizawa T, et al. A novel NI4Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26[J]. Am J Pathol, 2006, 169(2): 416-423.

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