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

David A Stevenson, Lisa Schill, Lisa Schoyer , Brage Storstein Andresen, A Bakker, P Bayrak-Toydemir, Emma Burkitt-Wright, K Chatfield, F Elefteriou, Y Elgersma, MJ Fischer, D Franz, Bruce Gelb, Anne Goriely, KW Gripp, A Hardan, K Keppler-Noreuil , B Kerr, B Korf, C LeoniFrank McCormick, S Plotkin, KA Rauen, K Reilly, A Roberts, A Sandler, D Siegel, K Walsh, BC Widemann

Publikation: Bidrag til tidsskriftKonferenceartikelForskningpeer review

Abstrakt

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.

OriginalsprogEngelsk
TidsskriftAmerican Journal of Medical Genetics. Part A
Vol/bind170
Udgave nummer8
Sider (fra-til)1959-1966
ISSN1552-4825
DOI
StatusUdgivet - 2016
Begivenhed4th International RASopathies Symposium - Seattle, USA
Varighed: 17. jul. 201519. jul. 2016

Konference

Konference4th International RASopathies Symposium
Land/OmrådeUSA
BySeattle
Periode17/07/201519/07/2016

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