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Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

โœ 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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Skeletal muscle pathology in Costello an
โœ William E. Tidyman; Han S. Lee; Katherine A. Rauen ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 645 KB

## Abstract Cardioโ€facioโ€cutaneous syndrome (CFC) and Costello syndrome (CS) are two of the more rare RASopathies caused by altered signal transduction of the Ras/mitogenโ€activated protein kinase (MAPK) pathway. All of the RASopathies exhibit some degree of hypotonia, but CS and CFC are more severe