Ontology highlight
ABSTRACT:
SUBMITTER: Stevenson DA
PROVIDER: S-EPMC4945362 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Stevenson David A DA Schill Lisa L Schoyer Lisa L Andresen Brage S BS Bakker Annette A Bayrak-Toydemir Pinar P Burkitt-Wright Emma E Chatfield Kathryn K Elefteriou Florent F Elgersma Ype Y Fisher Michael J MJ Franz David D Gelb Bruce D BD Goriely Anne A Gripp Karen W KW Hardan Antonio Y AY Keppler-Noreuil Kim M KM Kerr Bronwyn B Korf Bruce B Leoni Chiara C McCormick Frank F Plotkin Scott R SR Rauen Katherine A KA Reilly Karlyne K Roberts Amy A Sandler Abby A Siegel Dawn D Walsh Karin K Widemann Brigitte C BC
American journal of medical genetics. Part A 20160507 8
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 ...[more]