Article
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
American journal of medical genetics. Part A - 1 Feb 2009
Cesarini Laura, Alfieri Paolo, Pantaleoni Francesca, Vasta Isabella, Cerutti Marta, Petrangeli Valentina, Mariotti Paolo, Leoni Chiara, Ricci Daniela, Vicari Stefano, Selicorni Angelo, Tartaglia Marco, Mercuri Eugenio, Zampino Giuseppe
Abstract excerpt
Mutations in genes coding for transducers participating in the RAS/MAPK pathway have been identified as the molecular cause underlying a group of clinically related developmental disorders with cognitive deficits of variable severity. To determine the spectrum of cognitive defects associated with dysregulation of this signal cascade, we studied the profile of cognitive abilities in patients with mutations...
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