Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome
โ Scribed by Angela E. Lin; Mark E. Alexander; Steven D. Colan; Bronwyn Kerr; Katherine A. Rauen; Jacqueline Noonan; Jeanne Baffa; Elizabeth Hopkins; Katia Sol-Church; Giuseppe Limongelli; Maria Christina Digilio; Bruno Marino; A. Micheil Innes; Yoko Aoki; Michael Silberbach; Marie-Ange Delrue; Susan M. White; Robert M. Hamilton; William O'Connor; Paul D. Grossfeld; Leslie B. Smoot; Robert F. Padera; Karen W. Gripp
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 946 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Cardioโfacioโcutaneous syndrome (CFC) and Costello syndrome (CS) are two of the more rare RASopathies caused by altered signal transduction of the Ras/mitogenโactivated protein kinase (MAPK) pathway. All of the RASopathies exhibit some degree of hypotonia, but CS and CFC are more severe