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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. © 2016 Wiley Periodicals, Inc.

Original publication

DOI

10.1002/ajmg.a.37723

Type

Journal article

Journal

Am J Med Genet A

Publication Date

08/2016

Volume

170

Pages

1959 - 1966

Keywords

RASopathy, Ras/MAPK, cancer, clinical trials, experimental models, rare disorders