Fig. 3
From: First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
a Pedigree of the Tunisian family and compound heterozygosity of the proband, formed by the c.3582delT mutation, inherited from the father of the proband and also present in her brother, and the c.6295_6296delAT mutation inherited from the mother. The 2 mutations are shown in black, and in white the wild type alleles (WT). b Sanger validation shows segregation of the VPS13B mutations in the four family members