Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Marc R Woodbury-SmithEric DeneaultRyan K C YuenSusan WalkerMehdi ZarreiGiovanna PellecchiaJennifer L HoweNy HoangMohammed UddinChristian R MarshallChristina ChryslerAnn ThompsonPeter SzatmariStephen W SchererPublished in: Molecular autism (2017)
Penetrance for ASD is high among males but more variable among females with RAB39B mutations. A critical role for this gene in brain development and function is demonstrated.