The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Figure 1

Design of the study and distribution between genetic findings. (a) Information about size of proband groups included in this study and information about usage of their data for different types of analysis. (b) Diagnostic pipeline. (c) Variants spectrum analysis between EXT1/2, PTPN11 genes, and probands with negative findings. (d) Diagnostic yield of current study.

(a)

(b)

(c) Distribution between findings in 244 probands

(d) Diagnostic yield in 226 patients with sufficient clinical data