Tbx1 deficiency results in many physical manifestations of 22q11DS, including cardiac outflow tract anomalies101,102; pharyngeal apparatus defects109,110; craniofacial and skeletal defects111–113; hypocalcemia111; hypoparathyroidism114; abnormalities in the development of the outer, middle, and inner ear56,100,108,115–118, and other anomalies114,119, which makes Tbx1 a key genetic determinant of 22q11DS26,114,120,121. Here, TBX1 is linked to 22q11.2 deletion syndrome.