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

 
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Stevenson, David A.
Schill, Lisa
Schoyer, Lisa
Andresen, Brage S.
Bakker, Annette
Bayrak-Toydemir, Pinar
Burkitt-Wright, Emma
Chatfield, Kathryn
Elefteriou, Florent
Elgersma, Ype
Fisher, Michael J.
Franz, David
Gelb, Bruce D.
Goriely, Anne
Gripp, Karen W.
Hardan, Antonio Y.
Keppler-Noreuil, Kim M.
Kerr, Bronwyn
Korf, Bruce
Leoni, Chiara
McCormick, Frank
Rauen, Katherine A.
Reilly, Karlyne
Sandler, Abby
Siegel, Dawn
Walsh, Karin
Widemann, Brigitte C.
Note: Order does not necessarily reflect citation order of authors.
Published Version
https://doi.org/10.1002/ajmg.a.37723
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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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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945362/
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http://nrs.harvard.edu/urn-3:HUL.InstRepos:32674685

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