Novel PHOX2B germline mutation in childhood medulloblastoma: a case report

Novel PHOX2B germline mutation in childhood medulloblastoma: a case report

Abstract 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 det...

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Bibliographic Details
Main Authors: Caiping Ke, Xiaoshun Shi, Allen Menglin Chen, Chaoming Li, Bifeng Jiang, Kailing Huang, Zhouxia Zheng, Yanhui Liu, Zhuona Chen, Yingjun Luo, Huaming Lin, Jiexia Zhang
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Medulloblastoma
PHOX2B
Germline mutation
Whole exome sequencing
Cancer screening
Online Access:https://doi.org/10.1186/s13053-021-00170-5

Internet

https://doi.org/10.1186/s13053-021-00170-5

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