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学科主题临床医学
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors
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
2013-12-01
DOI10.1007/s00381-013-2283-5
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
WOS记录号WOS:000327894900004
引用统计
被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57327
专题北京大学第三临床医学院
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
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GB/T 7714
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.
APA Valera, Elvis Terci.,Ferraz, Sabrine Teixeira.,Brassesco, Maria Sol.,Zhen, Xiumei.,Shen, Yiping.,...&Tone, Luiz Gonzaga.(2013).Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.CHILDS NERVOUS SYSTEM,29(12),2151-2155.
MLA Valera, Elvis Terci,et al."Mowat-Wilson syndrome: the first report of an association with central nervous system tumors".CHILDS NERVOUS SYSTEM 29.12(2013):2151-2155.
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