RALA mutation in a patient with autism spectrum disorder and Noonan syndrome like phenotype.

RASopathies including Noonan syndrome (NS), Costello syndrome, and Cardiofaciocutaneous syndrome are caused by heterozygous germline mutations in genes of the RAS/MAPK pathway that plays a role in cellular proliferation, differentiation, and survival. Novel genes associated with RASopathies are increasing in number (Aoki et al. 2016). This article is protected by copyright. All rights reserved.