Fig. 3

Overview of molecular phenotypes and their association with the patient’s phenotype. Selection of the genes located near the breakpoints with affected coding sequences and/or altered expression. The heatmap indicates the log2 fold expression differences between the patient and the parents in the three different cell types. Expression changes of the truncated genes are split into separate boxes for each gene fragment. Grey boxes are shown for genes with less than ten normalized read counts. More details are provided in Additional file 3: Table S2 and Additional file 4: Table S3