SMARCB1 and Coffin-Siris syndrome: Molecular pathogenesis of Coffin-Siris syndrome (CSS), this pathogenic SMARCB1 variant is located in the C-terminal domain. It has been shown that this PV impairs the nucleosomal binding of SMARCB1 and leads to changes in gene expression as well as cellular morphology during induced IPSC differentiation which showed less neurite outgrowth than wild-type controls [258, 259].