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

• Main Authors: Xizan Yue (Author), Bo Liu (Author), Tiantian Han (Author), Didi Guo (Author), Ran Ding (Author), Guangyu Wang (Author)
• Format: Book
• Published: BMC, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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,...