A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion

We report a patient with developmental delay due to germline AUTS2 mutation who developed a low‐grade astrocytoma. While the contribution of this mutation to the pathogenesis of the tumor is not known at this time, a role of AUTS2 in deregulation of PRC1 can be a part in tumorigenesis of a brain tum...

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Detalles Bibliográficos
Autores principales: van Kampen, Francoise S., Doornbos, Marianne E., van Rijn, Monique A., den Bever, Yolande
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799647/
https://www.ncbi.nlm.nih.gov/pubmed/29445462
http://dx.doi.org/10.1002/ccr3.1312
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author van Kampen, Francoise S.
Doornbos, Marianne E.
van Rijn, Monique A.
den Bever, Yolande
author_facet van Kampen, Francoise S.
Doornbos, Marianne E.
van Rijn, Monique A.
den Bever, Yolande
author_sort van Kampen, Francoise S.
collection PubMed
description We report a patient with developmental delay due to germline AUTS2 mutation who developed a low‐grade astrocytoma. While the contribution of this mutation to the pathogenesis of the tumor is not known at this time, a role of AUTS2 in deregulation of PRC1 can be a part in tumorigenesis of a brain tumor.
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spelling pubmed-57996472018-02-14 A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion van Kampen, Francoise S. Doornbos, Marianne E. van Rijn, Monique A. den Bever, Yolande Clin Case Rep Case Reports We report a patient with developmental delay due to germline AUTS2 mutation who developed a low‐grade astrocytoma. While the contribution of this mutation to the pathogenesis of the tumor is not known at this time, a role of AUTS2 in deregulation of PRC1 can be a part in tumorigenesis of a brain tumor. John Wiley and Sons Inc. 2017-12-22 /pmc/articles/PMC5799647/ /pubmed/29445462 http://dx.doi.org/10.1002/ccr3.1312 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
van Kampen, Francoise S.
Doornbos, Marianne E.
van Rijn, Monique A.
den Bever, Yolande
A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
title A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
title_full A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
title_fullStr A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
title_full_unstemmed A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
title_short A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
title_sort low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799647/
https://www.ncbi.nlm.nih.gov/pubmed/29445462
http://dx.doi.org/10.1002/ccr3.1312
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