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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
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 |
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