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

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 LeoniFrank McCormick, Scott R. Plotkin, Katherine A Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh, Brigitte C. Widemann

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1959-1966
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number8
DOIs
StatePublished - Aug 1 2016

Keywords

  • cancer
  • clinical trials
  • experimental models
  • rare disorders
  • Ras/MAPK
  • RASopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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