Publication: The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
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Date
2016
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Wiley-Blackwell
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Stevenson, David A., Lisa Schill, Lisa Schoyer, Brage S. Andresen, Annette Bakker, Pinar Bayrak-Toydemir, Emma Burkitt-Wright, et al. 2016. “The Fourth International Symposium on Genetic Disorders of the Ras/MAPK Pathway.” American Journal of Medical Genetics Part A 170 (8) (May 7): 1959–1966. Portico. doi:10.1002/ajmg.a.37723.
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.
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