北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第三临床医学院  > 期刊论文
学科主题: 临床医学
题名:
Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report
作者: 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
发表日期: 2012-09-05
DOI: 10.3760/cma.j.issn.0366-6999.2012.17.039
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60154
Appears in Collections:北京大学第三临床医学院_期刊论文

Files in This Item:

There are no files associated with this item.


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

Recommended Citation:
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.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Chen Lian]'s Articles
[Zhao Yang-yu]'s Articles
[Wei Yuan]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Chen Lian]‘s Articles
[Zhao Yang-yu]‘s Articles
[Wei Yuan]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace