2016-08-01
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
Publication
Publication
American Journal of Medical Genetics. Part A , Volume 170 - Issue 8 p. 1959- 1966
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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| doi.org/10.1002/ajmg.a.37723, hdl.handle.net/1765/86134 | |
| American Journal of Medical Genetics. Part A | |
| Organisation | Erasmus University Rotterdam |
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Stevenson, D. A., Schill, L., Schoyer, L., Andresen, B., Bakker, A., Bayrak-Toydemir, P., Burkitt Wright, E. M., Chatfield, K., Elefteriou, F., Elgersma, Y., Fisher, M. J., Franz, D., Gelb, B., Goriely, A., Gripp, K., Hardan, A. Y., Keppler-Noreuil, K. M., Kerr, B., Korf, B., … Widemann, B. C. (2016). The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. American Journal of Medical Genetics. Part A, 170(8), 1959–1966.https://doi.org/10.1002/ajmg.a.37723 |
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