ACTA2 (Thoracic aortic aneurysm and dissection syndrome)KCNJ2 (Andersen syndrome)45 × 0 karyotype (Turner syndrome)Deletion of 1.5-1.8Mb region (7q11.3) including CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 (William Beuren syndrome)HOXA1 (Bosley-Salih-Alorainy syndrome, Athabaskan brainstem dysgenesis syndrome)COL3A1 (Vascular Ehlers Danlos syndrome). The gene discussed is GTF2I; the disease is Williams syndrome.