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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway AMERICAN JOURNAL OF MEDICAL GENETICS PART A Stevenson, D. A., Schill, L., Schoyer, L., Andresen, B. S., Bakker, A., Bayrak-Toydemir, P., Burkitt-Wright, E., Chatfield, K., Elefteriou, F., Elgersma, Y., Fisher, M. J., Franz, D., Gelb, B. D., Goriely, A., Gripp, K. W., Hardan, A. Y., Keppler-Noreuil, K. M., Kerr, B., Korf, B., Leoni, C., McCormick, F., Plotkin, S. R., Rauen, K. A., Reilly, K., Roberts, A., Sandler, A., Siegel, D., Walsh, K., Widemann, B. C. 2016; 170 (8): 1959-1966

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.

View details for DOI 10.1002/ajmg.a.37723

View details for PubMedID 27155140