Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 8, Pages 1959-1966Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37723
Keywords
RASopathy; Ras; MAPK; cancer; rare disorders; clinical trials; experimental models
Categories
Funding
- National Institutes of Health [1R13TR001272-01]
- International Costello Syndrome
- March of Dimes
- Noonan Syndrome Foundation
- Children's Tumor Foundation
- NF Network
- NCI CCR intramural research program
- CFC International
- Costello Syndrome Family Network
- National Institutes of Health/National Institute of Arthritis and Musculoskeletal and Skin Disease [5RO1AR062165]
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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. (c) 2016 Wiley Periodicals, Inc.
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