Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant

Ependymoma is the third most common pediatric brain tumor. Predisposition to develop ependymomas has been reported in different hereditary diseases, but the pathogenic variants related to the familial syndromes have rarely been detected in sporadic ependymomas. De novo variants in POLR2A, the gene e...

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Detalles Bibliográficos
Autores principales: Paparella, Roberto, Caroleo, Anna Maria, Agolini, Emanuele, Chillemi, Giovanni, Miele, Evelina, Pedace, Lucia, Rinelli, Martina, Pizzi, Simone, Boccuto, Luigi, Colafati, Giovanna Stefania, Lodi, Mariachiara, Cacchione, Antonella, Carai, Andrea, Digilio, Maria Cristina, Tomà, Paolo, Tartaglia, Marco, Mastronuzzi, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543264/
https://www.ncbi.nlm.nih.gov/pubmed/35689525
http://dx.doi.org/10.1002/ajmg.a.62869

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543264/
https://www.ncbi.nlm.nih.gov/pubmed/35689525
http://dx.doi.org/10.1002/ajmg.a.62869

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