Figure 2.

Clinical and molecular revision of the literature. (a) Clinical revision of the literature. Frequency (y‐axis) of the clinical features (x‐axis) reported for UMS patients. Clinical signs restricted to one sex are indicated with F (females) or M (males). (b) Schematic structure of TBX3 gene and known mutations associated to UMS. Exons are in scale, introns are not in scale. The protein's functional domains are shown as boxes on the bottom of the exons. The nomenclature of each genomic change is given according to NM_005996.4. E: exon; P: phosphorylation site; P/LP: pathogenic/likely pathogenic; B/LB: benign/likely benign.