Fig. 3From: A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasiaThe negative effect of this variant on CASK expression. a Western blotting revealed a downregulation in the expression of the CASK protein after mutation. b qPCR revealed that there was no significant difference in the mRNA expression of CASK between the WT and MUT. c Immunofluorescence revealed a downregulation in the expression of the CASK protein after mutationBack to article page