The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
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- 作者：David A. Stevenson ; Lisa Schill ; Lisa Schoyer ; Brage S. Andresen ; Annette Bakker ; Pinar Bayrak-Toydemir ; Emma Burkitt-Wright ; Kathryn Chatfield ; Florent Elefteriou ; Ype Elgersma ; Michael J. Fisher ; David Franz ; Bruce D. Gelb ; Anne Goriely ; Karen W. Gripp ; Antonio Y. Hardan ; Kim M. Keppler-Noreuil ; Bronwyn Kerr ; Bruce Korf ; Chiara Leoni ; Frank McCormick ; Scott R. Plotkin ; Katherine A. Rauen ; Karlyne Reilly ; Amy Roberts ; Abby Sandler ; Dawn Siegel ; Karin Walsh and Brigitte C. Widemann
- 刊名：American Journal of Medical Genetics Part A
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：170
- 期：8
- 页码：1959-1966
- 全文大小：107K
- ISSN：1552-4833
文摘
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.