PTHP-14. Two-hit inactivation of NSD1 in a patient with Sotos syndrome and pineoblastoma
Sign Up to like & getrecommendations! Published in 2025 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noaf201.1071
Abstract: Sotos syndrome, a congenital overgrowth disorder caused by monoallelic loss-of-function variants in NSD1, is associated with a 3-5% lifetime risk of pediatric malignancies. While NSD1 alterations are implicated in various cancers, their role in carcinogenesis… read more here.
Keywords: inactivation nsd1; tumor; sotos syndrome; pineoblastoma ... See more keywords