PMC9470928_01
PMC9470928_02
Images of patients with PMS. (A) Case 9, 2 years old; (B) case 3, 4 years old; (C) case 14, 6 years old; (D) case 16, 7 years old; (E) case 15, 8 years old; (F) case 13, 9 years old; (G) case 12, 10 years old; (H) case 20, 11 years old; (I) case 10, 13 years old; and (J) case 21, 13 years old. (H,J) Patients with pathogenic variants of the SHANK gene; others: the patients with 22q13 deletion encompass the SHANK3 gene or an intragenic deletion of this gene.
fgene-13-961196-g003.jpg
PMC9470928_02_fgene-13-961196-g003.jpg
F3
As shown in Figure 3, patients with PMS had mild to moderate facial dysmorphism.