Article
Autism traits in the RASopathies.
Journal of medical genetics - 1 Jan 2014
Adviento Brigid, Corbin Iris L, Widjaja Felicia, Desachy Guillaume, Enrique Nicole, Rosser Tena, Risi Susan, Marco Elysa J, Hendren Robert L, Bearden Carrie E, Rauen Katherine A, Weiss Lauren A
Abstract excerpt
BACKGROUND: Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders...
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