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:
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors
作者: Valera, Elvis Terci1,8; Ferraz, Sabrine Teixeira1; Brassesco, Maria Sol2; Zhen, Xiumei3,6; Shen, Yiping3; Santos, Antonio Carlos dos4; Neder, Luciano5; Oliveira, Ricardo Santos7; Scrideli, Carlos Alberto1; Tone, Luiz Gonzaga1
关键词: Mowat-Wilson syndrome ; Cancer genetics ; Brain cancer ; Hirschsprung&prime ; s disease ; Children
刊名: CHILDS NERVOUS SYSTEM
发表日期: 2013-12-01
DOI: 10.1007/s00381-013-2283-5
卷: 29, 期:12, 页:2151-2155
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Pediatrics ; Surgery
研究领域[WOS]: Neurosciences & Neurology ; Pediatrics ; Surgery
关键词[WOS]: HIRSCHSPRUNG-DISEASE
英文摘要:

Mowat-Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung′s disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function. This report is the first to describe the association of MWS with two different asynchronous malignant brain tumors (medulloblastoma and glioblastoma) occurring in a child.

语种: 英语
所属项目编号: 2010/15717-0
项目资助者: FAPESP
WOS记录号: WOS:000327894900004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57327
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.Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Pediat, Div Pediat Oncol, BR-05508 Sao Paulo, Brazil
2.Univ Sao Paulo, Fac Philosophy Sci & Letters Ribeirao Preto, BR-05508 Sao Paulo, Brazil
3.Childrens Hosp, Dept Lab Med, Genet Diagnost Lab, Boston, MA 02115 USA
4.Univ Sao Paulo, Fac Med Ribeirao Preto, Div Radiol, BR-05508 Sao Paulo, Brazil
5.Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Pathol, BR-05508 Sao Paulo, Brazil
6.Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100871, Peoples R China
7.Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Surg & Anat, Div Pediat Neurosurg, BR-05508 Sao Paulo, Brazil
8.Univ Sao Paulo, Fac Med Ribeirao Preto, Hosp Clin, Dept Pediatria, BR-14048900 Ribeirao Preto, SP, Brazil

Recommended Citation:
Valera, Elvis Terci,Ferraz, Sabrine Teixeira,Brassesco, Maria Sol,et al. Mowat-Wilson syndrome: the first report of an association with central nervous system tumors[J]. CHILDS NERVOUS SYSTEM,2013,29(12):2151-2155.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Valera, Elvis Terci]'s Articles
[Ferraz, Sabrine Teixeira]'s Articles
[Brassesco, Maria Sol]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Valera, Elvis Terci]‘s Articles
[Ferraz, Sabrine Teixeira]‘s Articles
[Brassesco, Maria Sol]‘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