𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

✍ Scribed by Bronwyn Kerr; Judith Allanson; Marie Ange Delrue; Karen W. Gripp; Didier Lacombe; Angela E. Lin; Katherine A. Rauen

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
49 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

The RAS/MAPK syndromes: novel roles of t
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
✍ Yoko Aoki; Tetsuya Niihori; Yoko Narumi; Shigeo Kure; Yoichi Matsubara πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 272 KB

The RAS proteins and their downstream pathways play pivotal roles in cell proliferation, differentiation, survival and cell death, but their physiological roles in human development had remained unknown. Noonan syndrome, Costello syndrome, and cardio-facio-cutaneous (CFC) syndrome are autosomal domi

Skeletal muscle pathology in Costello an
Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: Developmental consequences of germline Ras/MAPK activation on myogenesis
✍ William E. Tidyman; Han S. Lee; Katherine A. Rauen πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 645 KB

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