The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field.

Cancer, Clinical trials, Experimental models, Rare disorders, Ras/MAPK, RASopathy
dx.doi.org/10.1002/ajmg.a.37723, hdl.handle.net/1765/86134
American Journal of Medical Genetics. Part A
Erasmus University Rotterdam

Stevenson, D.A, Schill, L, Schoyer, L, Andresen, B.S, Bakker, A, Bayrak-Toydemir, P, … Widemann, B.C. (2016). The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. American Journal of Medical Genetics. Part A, 170(8), 1959–1966. doi:10.1002/ajmg.a.37723