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Novel PHOX2B germline mutation in childhood medulloblastoma: a case report

BACKGROUND: Medulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this disease was reported. CASE PRESENTATION: We present an 11-year-old male with medulloblastoma, who harbors a de novo PHOX2B germline mutation as detected b...

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Detalles Bibliográficos
Autores principales: Ke, Caiping, Shi, Xiaoshun, Chen, Allen Menglin, Li, Chaoming, Jiang, Bifeng, Huang, Kailing, Zheng, Zhouxia, Liu, Yanhui, Chen, Zhuona, Luo, Yingjun, Lin, Huaming, Zhang, Jiexia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7816394/
https://www.ncbi.nlm.nih.gov/pubmed/33468206
http://dx.doi.org/10.1186/s13053-021-00170-5