先天性角化不良1例被引量：1

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摘要先天性角化不良（dyskeratosis congenita）是一种少见的累及多系统的先天性综合征。1906年由Zinsser首次报道，现将我们所遇到1例报道如下。

作者周欣田歆马少吟李薇刘玉梅张锡宝

机构地区广州市皮肤病防治所

出处《中国麻风皮肤病杂志》 2009年第10期776-777,共2页 China Journal of Leprosy and Skin Diseases

关键词先天性角化不良先天性综合征临床治疗

参考文献5

1Dokal I.Dyskeratosis congenital in all its forms.Br J Haematol 2000;110(4):768-779.
2Vulliamy T,Marrone A,Goldman F,et al.The RNA component of telomerase is mutated in antosomal dominant dyskeratosis congenita.Nature 2001;413(6854):432-435.
3Ip P,Knight R.Peripheral neuropathy-a noval finding in dyskeratosis congenital.Eur J Paediatr Neurol 2005;9(2):85-90.
4Nazir S,Sayani N.Retinal hemorrhages in a patient with dyskeratosis congenital.Eur J Paeiatr Neurol 2005;9(2):85-89.
5Utz JP,Ryu JH.Usual interstitial pneumonia complicating dyskeratosis congentia.Mayo Clin Proc 2005;80(6):817-821.

1Knight S, Vulliamy T, Copplestone A, et al. Dyskeratosis Congeni- ta (DC) Registry: identification of new features of DC. Br J Haema- tol, 1998,103(4) :990 - 996.
2Nelson ND, Bertuch AA. Dyskeratosis congenita as a disorder of te- lomere maintenance. Mutat Res,2012,730( 1 - 2) :43 - 51.
3Knight SW, Heiss NS, Vtdliamy TJ, et al. X - linked dyskeratosis congenita is predominantly caused by missense mutations in the DKCI gene. Am J Hum Genet, 1999,65( 1 ) :50 - 58.
4Parry. EM, Alder JK, Lee SS, et al. Decreased dyskerin levels as a mechanism of telomere shortening in X - linked dyskeratosis congen- ira. J Med Genet,2011,48(5) :327 - 333.

1袁姗姗,陆一丹,吴翠玲,李惠萍,戈慧,张玉明.先天性角化不良症患儿的临床特征和基因分析:附1例报告[J].南方医科大学学报,2015,35(4):553-556.

中国麻风皮肤病杂志

2009年第10期

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