Publication | Open Access

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Developmental BiologyMendelian DisorderBrain DevelopmentGenetic DisorderGeneticsRna SplicingGenes EssentialMolecular GeneticsDisease Gene IdentificationDe Novo MutationsMedicineSplicing VariantRna ProcessingIntellectual-disability Syndrome