The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.

Citation:
Pierpont EI, Bennett AM, Schoyer L, ……. Fear VS, Frone MN, et al. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. Am J Med Genet Part A. 2023

Keywords:
Costello syndrome; Noonan syndrome; cardio-facio-cutaneus syndrome; neurofibromatosis; signaling; therapeutics

Abstract:
Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.