Fig. 3
From: Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review
Genetic location of the SOX5 point variants associated with LAMSHF identified to date. a Boxes 1 to 15, coding exons of isoform NM_006940. The variant reported in this case showed a square frame. We used bars to report the variants, and " × " represents the number of cases. The size of exon and intron is not proportional. b Distribution of amino acid changes related to the protein domains CC (coiled-coil) and HMG (high-mobility-group). Protein and domain residue boundaries are indicated underneath the schematic