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Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report
Chen Lian1; Zhao Yang-yu1; Wei Yuan1; Wang Yan1; Zhang Yan1; Wang Yong-qing1; Liu Jian-ying2; Yang Yong3; Tan Yan-hong3
关键词prenatal diagnosis ectodermal dysplasia fetoscopy
刊名CHINESE MEDICAL JOURNAL
2012-09-05
DOI10.3760/cma.j.issn.0366-6999.2012.17.039
125期:17页:3177-3179
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
研究领域[WOS]General & Internal Medicine
英文摘要

Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature. Chin Med J 2012;125(17):3177-3179

语种英语
WOS记录号WOS:000309378100040
引用统计
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60154
专题北京大学第三临床医学院
北京大学医学部管理机构_计划财务处
北京大学基础医学院
北京大学第三临床医学院_妇产科
作者单位1.Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100191, Peoples R China
2.Peking Univ, Hosp 3, Dept Pathol, Beijing 100191, Peoples R China
3.Peking Univ, Hosp 3, Dept Dermatol, Beijing 100191, Peoples R China
推荐引用方式
GB/T 7714
Chen Lian,Zhao Yang-yu,Wei Yuan,et al. Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report[J]. CHINESE MEDICAL JOURNAL,2012,125(17):3177-3179.
APA Chen Lian.,Zhao Yang-yu.,Wei Yuan.,Wang Yan.,Zhang Yan.,...&Tan Yan-hong.(2012).Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report.CHINESE MEDICAL JOURNAL,125(17),3177-3179.
MLA Chen Lian,et al."Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report".CHINESE MEDICAL JOURNAL 125.17(2012):3177-3179.
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