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学科主题: 临床医学
题名:
A Case of Hailey-Hailey Disease in an Infant with a New ATP2C1 Gene Mutation
作者: Xu, Zhe1; Zhang, Lixin1; Xiao, Yuanyuan1; Li, Li1; Lin, Zhimiao2; Yang, Yong2; Ma, Lin1
刊名: PEDIATRIC DERMATOLOGY
发表日期: 2011-03-01
DOI: 10.1111/j.1525-1470.2010.01088.x
卷: 28, 期:2, 页:165-168
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dermatology ; Pediatrics
研究领域[WOS]: Dermatology ; Pediatrics
关键词[WOS]: JAPANESE ; PUMP
英文摘要:

Familial benign chronic pemphigus or Hailey-Hailey disease (OMIM 169600) is an autosomal-dominant blistering disease. Here we present a rare case of familial benign chronic pemphigus in a Chinese infant. The 5-month-old proband, who showed diffusely distributed skin lesions, is the youngest patient of Hailey-Hailey disease ever reported. The detection of an ATP2C1 gene mutation in this infant confirmed the diagnosis. His mother carried the same mutation, but with no history of skin lesions.

语种: 英语
所属项目编号: 7062023 ; 7092031
项目资助者: Beijing Natural Science Foundation
WOS记录号: WOS:000290381900015
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53201
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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作者单位: 1.Capital Med Univ, Beijing Childrens Hosp, Dept Dermatol, Beijing 100045, Peoples R China
2.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100871, Peoples R China

Recommended Citation:
Xu, Zhe,Zhang, Lixin,Xiao, Yuanyuan,et al. A Case of Hailey-Hailey Disease in an Infant with a New ATP2C1 Gene Mutation[J]. PEDIATRIC DERMATOLOGY,2011,28(2):165-168.
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