Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

Figure 2

Schematic representation of exon and intronic regions of human MCPH1, CENPJ, and CASK genes along with the position of known and novel mutations. The white box represents the untranslated regions (UTR). The straight line represents the introns and the rectangle represents the exons. The asterisk sign shows the novel deletion variant in the MCPH1 gene.