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

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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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Acknowledgments

This study was financially supported by FAPESP process number 2010/15717-0.

Conflict of interest

All authors have no conflict of interest to declare.

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Authors and Affiliations

  1. Division of Pediatric Oncology, Department of Pediatrics; Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil

    Elvis Terci Valera, Sabrine Teixeira Ferraz, Carlos Alberto Scrideli & Luiz Gonzaga Tone

  2. Faculty of Philosophy, Sciences and Letters at Ribeirão Preto, University of São Paulo, São Paulo, Brazil

    María Sol Brassesco

  3. Genetic Diagnostic Laboratory, Department of Laboratory Medicine, Children’s Hospital, Boston, USA

    Xiumei Zhen & Yiping Shen

  4. Division of Radiology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil

    Antonio Carlos dos Santos

  5. Department of Pathology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil

    Luciano Neder

  6. Department of Obstetrics and Gynecology, Peking University, Third Hospital, Beijing, China

    Xiumei Zhen

  7. Division of Pediatric Neurosurgery of the Department of Surgery and Anatomy, Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil

    Ricardo Santos Oliveira

  8. Departamento de Pediatria, Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto—USP, 7 andar. Av. Bandeirantes, 3900. Bairro Monte Alegre, 14048-900, Ribeirão Preto, SP, Brazil

    Elvis Terci Valera

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  1. Elvis Terci Valera
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  2. Sabrine Teixeira Ferraz
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  3. María Sol Brassesco
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  4. Xiumei Zhen
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  5. Yiping Shen
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  6. Antonio Carlos dos Santos
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  7. Luciano Neder
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  8. Ricardo Santos Oliveira
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  9. Carlos Alberto Scrideli
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  10. Luiz Gonzaga Tone
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Corresponding author

Correspondence to Elvis Terci Valera.

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Valera, E.T., Ferraz, S.T., Brassesco, M.S. et al. Mowat–Wilson syndrome: the first report of an association with central nervous system tumors. Childs Nerv Syst 29, 2151–2155 (2013). https://doi.org/10.1007/s00381-013-2283-5

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  • DOI: https://doi.org/10.1007/s00381-013-2283-5

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