白色丘疹样营养不良型大疱性表皮松解症一例

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摘要患者男，29岁，维拜尔族，未婚。因身上反复起红疹、白色丘疹且伴指、趾甲变形21年就诊。8岁时开始背部、四肢出现黄豆至花生仁大小的鲜红色斑疹、斑丘疹，

作者丁媛于世荣普雄明

机构地区新疆维吾尔自治区人民医院皮肤性病科

出处《中华医学遗传学杂志》 CAS CSCD 北大核心 2011年第5期600-600,共1页 Chinese Journal of Medical Genetics

关键词白色丘疹样营养不良型大疱性表皮松解症红色斑疹花生仁斑丘疹

参考文献4

1Jonkman MF, Moreno G, Rouan F, et al. Dominant dystrophia epidermolysis bullosa ( pasini ) caused by a novel glycine substituation mutation in the type VII collagen gene (COLTA1). J Invest Dermatol, 1999,112:815-817.
2Greenspan DS, Byers MG, Eddy RL, et al. Localization of the human collagen gene COL7A1 to 3p21. by fluorescence in situ hybridization. Cytogenet Cell Genet, 1993, 62:35 -36.
3Christiano AM, Hoffman GG, Chung-Honet LC, et al. Structural or ganization of the human type V II collagen gene (COL7A1), composed ofmore exons than any previously characterized gene. Genomics, 1994, 21 : 169-179.
4Zhang XJ, Song YX. Zhang XQ, et al. A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa. Clin Exp Dermatol, 2003,28 : 437-439.

中华医学遗传学杂志

2011年第5期

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