单纯型大疱性表皮松解症Koebner亚型一家系

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摘要先证者（Ⅳ4）男,7岁。躯干四肢水疱反复发作7年就诊。患者出生时开始，受伤或摩擦后躯干四肢出现水疱，以四肢末端背面皮损更严重，水疱愈合后不留搬痕。

作者金城李明赖美玲朱小红杨莉佳

出处《中华医学遗传学杂志》 CAS CSCD 北大核心 2011年第4期478-478,共1页 Chinese Journal of Medical Genetics

关键词单纯型大疱性表皮松解症家系亚型四肢末端反复发作先证者水疱出生时

参考文献4

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2Galligan P,Listwan P,Siller GM,et al.A novel mutation in the L12 domain of keratin 5 in the Kobner variant of epidermolysis bullosa simplex.J Invest Dermatol,1998,111:524-527.
3Liovic M,Stojan J,Bowden PE,et al.A novel keratin 5 mutation (K5V186L) in a family with EBS-K:a conservative substitution can lead to development of different disease phenotypes.J.Invest.Dermatol,2001,116:964-969.
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中华医学遗传学杂志

2011年第4期

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