Fig. 3


Impact of upd(7)//7q)mat and the deletion in GRB10 on gene expression. a PCA plots of the full-length RNAseq data obtained from the GRB10DEL twins (blood), and the UPD7M/UPD7qM fibroblasts, and of differentially expressed genes (DEGs) compared to controls. b Heatmap visualization showing differential gene expression in the GRB10Del (left), and UPD7MAT/UPD7qMAT patients (right). Green indicates reduced expression, red indicates increased expression).c Differential gene expression analysis across the three different genetic constitutions, highlighting the number of genes that are either up- or downregulated. d Clustering analysis reveals distinct patterns of gene expression in GRB10DEL and UPD7MAT/UPD7qMAT, respectively