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Wiley, The American Journal of Medical Genetics - Part A, 8(170), p. 1959-1966, 2016

DOI: 10.1002/ajmg.a.37723

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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Journal article published in 2016 by David A. (David A.) Stevenson, L. (Lisa) Schill, L. (Lisa) Schoyer, Brage S. (B.) Andresen ORCID, A. (Annette) Bakker, P. (Pinar) Bayrak-Toydemir, Emma M. M. (Emma M.) Burkitt Wright, K. (Kathryn) Chatfield, F. (Florent) Elefteriou, Y. (Ype) Elgersma, Michael J. (Michael J.) Fisher, D. (David) Franz, Bruce D. (Bruce) Gelb, A. (Anne) Goriely ORCID, Karen W. (Karen) Gripp and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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.