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Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes

Exome-wide sequencing studies recently described PTPN11 as a novel brain somatic epilepsy gene. In contrast, germline mutations of PTPN11 are known to cause Noonan syndrome, a multisystem disorder characterized by abnormal facial features, developmental delay, and sporadically, also brain tumors. He...

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Detalles Bibliográficos
Autores principales: Hoffmann, Lucas, Coras, Roland, Kobow, Katja, López-Rivera, Javier A., Lal, Dennis, Leu, Costin, Najm, Imad, Nürnberg, Peter, Herms, Jochen, Harter, Patrick N., Bien, Christian G., Kalbhenn, Thilo, Müller, Markus, Pieper, Tom, Hartlieb, Till, Kudernatsch, Manfred, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Blümcke, Ingmar, Jabari, Samir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175344/
https://www.ncbi.nlm.nih.gov/pubmed/36973520
http://dx.doi.org/10.1007/s00401-023-02561-5