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Published in: Child's Nervous System 12/2013

01-12-2013 | Brief Communication

Mowat–Wilson syndrome: the first report of an association with central nervous system tumors

Authors: Elvis Terci Valera, Sabrine Teixeira Ferraz, María Sol Brassesco, Xiumei Zhen, Yiping Shen, Antonio Carlos dos Santos, Luciano Neder, Ricardo Santos Oliveira, Carlos Alberto Scrideli, Luiz Gonzaga Tone

Published in: Child's Nervous System | Issue 12/2013

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Abstract

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.
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Metadata
Title
Mowat–Wilson syndrome: the first report of an association with central nervous system tumors
Authors
Elvis Terci Valera
Sabrine Teixeira Ferraz
María Sol Brassesco
Xiumei Zhen
Yiping Shen
Antonio Carlos dos Santos
Luciano Neder
Ricardo Santos Oliveira
Carlos Alberto Scrideli
Luiz Gonzaga Tone
Publication date
01-12-2013
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 12/2013
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-013-2283-5

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