The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. Issue 8 (7th May 2016)

• Record Type: Journal Article
• Authors: 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; Plotkin, Scott R.; Rauen, Katherine A.; Reilly, Karlyne; Roberts, Amy; Sandler, Abby; Siegel, Dawn; Walsh, Karin; Widemann, Brigitte C.
• Is Part Of: American journal of medical genetics. Volume 170:Issue 8(2016)
• Page Start: 1959
• Page End: 1966
• Publication Date: 2016-05-07
• Subjects: RASopathy -- Ras/MAPK -- cancer -- rare disorders -- clinical trials -- experimental models; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37723
• Languages: English
• ISSNs: 1552-4825

Abstract

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. © 2016 Wiley Periodicals, Inc.