Article
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Molecular genetics & genomic medicine - 1 Sept 2020
Cucinotta Francesca, Ricciardello Arianna, Turriziani Laura, Calabrese Giorgia, Briguglio Marilena, Boncoddo Maria, Bellomo Fabiana, Tomaiuolo Pasquale, Martines Silvia, Bruschetta Marianna, La Fauci Belponer Francesca, Di Bella Tiziana, Colombi Costanza, Baccarin Marco, Picinelli Chiara, Castronovo Paola, Lintas Carla, Sacco Roberto, Biederer Thomas, Kellam Barbara, Scherer Stephen W, Persico Antonio M
Abstract excerpt
BACKGROUND: Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability. METHODS: Array-CGH (a-CGH) and whole genome sequencing (WGS) were performed on a multiplex family with two small children diagnosed with ASD at 17 and 18 months of age. Both brothers...
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