The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation

Abstract Germline mutations of NSD1 are associated with Sotos syndrome, characterized by distinctive facial features, overgrowth, and developmental delay. Approximately 3% of individuals with Sotos syndrome develop tumors. In this study, we describe an infant in pineoblastoma with facial anomalies,...

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Bibliographic Details
Published in:BMC Pediatrics
Main Authors: Xizan Yue, Bo Liu, Tiantian Han, Didi Guo, Ran Ding, Guangyu Wang
Format: Article
Language:English
Published: BMC 2024-03-01
Subjects:
NSD1
Sotos syndrome
Pineoblastoma
Online Access:https://doi.org/10.1186/s12887-024-04636-y

Internet

https://doi.org/10.1186/s12887-024-04636-y

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