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.
Originalsprog | Engelsk |
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Tidsskrift | American Journal of Medical Genetics. Part A |
Vol/bind | 170 |
Udgave nummer | 8 |
Sider (fra-til) | 1959-1966 |
ISSN | 1552-4825 |
DOI | |
Status | Udgivet - 2016 |
Begivenhed | 4th International RASopathies Symposium - Seattle, USA Varighed: 17. jul. 2015 → 19. jul. 2016 |
Konference
Konference | 4th International RASopathies Symposium |
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Land/Område | USA |
By | Seattle |
Periode | 17/07/2015 → 19/07/2016 |