2016•American Journal of Medical Genetics Part AOpen access
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A. Stevenson, Lisa Schill, Lisa Schoyer, Brage Storstein Andresen, Annette Bakker, Pınar Bayrak‐Toydemir, Emma Burkitt‐Wright, Kathryn C. Chatfield, Florent Elefteriou, Ype Elgersma, Michael J. Fisher, David Neal Franz, Bruce D. Gelb, Anne Goriely, Karen W. Gripp, Antonio Y. Hardan, Kim M. Keppler‐Noreuil, Bronwyn Kerr, Bruce R. Korf, Chiara Leoni, Frank McCormick, Scott R. Plotkin, Katherine A. Rauen, Karlyne M. Reilly, Amy E. Roberts, Abby B. Sandler, Dawn H. Siegel, Karin S. Walsh, Brigitte C. Widemann
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Abstract
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.