Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

Abstract The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. We report here the case of a young patient without any remarkable familial medical...

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Bibliographic Details
Main Authors: Alice Goldenberg, Florent Marguet, Vianney Gilard, Aude-Marie Cardine, Adnan Hassani, François Doz, Sophie Radi, Stéphanie Vasseur, Jacqueline Bou, Maud Branchaud, Claude Houdayer, Stéphanie Baert-Desurmont, Annie Laquerriere, Thierry Frebourg
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Acta Neuropathologica Communications
Subjects:
PTEN
Mosaics
Hamartomas
Central nervous system
Neural crest derivatives
Online Access:https://doi.org/10.1186/s40478-019-0841-0

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