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

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...

Source: BMC Pediatrics - March 8, 2024 Category: Pediatrics Authors: Xizan Yue, Bo Liu, Tiantian Han, Didi Guo, Ran Ding and Guangyu Wang Tags: Case Report Source Type: research