Article
Behavioral profile in RASopathies.
American journal of medical genetics. Part A - 1 Apr 2014
Alfieri Paolo, Piccini Giorgia, Caciolo Cristina, Perrino Francesca, Gambardella Maria Luigia, Mallardi Maria, Cesarini Laura, Leoni Chiara, Leone Daniela, Fossati Chiara, Selicorni Angelo, Digilio Maria Cristina, Tartaglia Marco, Mercuri Eugenio, Zampino Giuseppe, Vicari Stefano
Abstract excerpt
Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. Parents of 70 individuals with a RASopathy were asked to fill out the following questionnaires: Child Behavior Checklist...
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