Figure 1.

DNA methylation pattern of WHS and undiagnosed patients with NSD2 variants. A. The 280 probes identified in the training set by regression analysis were clearly separated into 16 WHS and 106 control samples through hierarchical clustering. B. The 280 probes were validated to classify 4 WHS from 36 controls in the testing set. Three undiagnosed patients with NSD2 VUS were also classified into a WHS branch. Another 3 patients with likely benign NSD2 variants were classified into a control branch. C. Schematic illustration of variants of the 3 cases classified into a WHS branch in (B).