Figure 3
From: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Statistics results for genetic diagnosis. Each columns represents different detection methodology used (SS, HCP, TSO and WES) (a) Percentage and total of families characterized and unsolved by the four different approaches. (b) Percentage of patients with MECP2, CDKL5, FOXG1, other genes with pathogenic mutations and the unsolved cases for the Sanger Sequencing (SS) and the three NGS approaches. Total of mutations found are detailed in Table S2.
