For many of these TFs, disruption of cooperativity has been identified as the cause of disease, including GATA4 and TBX5 in CHDs (Hiroi et al., 2001; Ang et al., 2016), SOX9 in campomelic dysplasia (Sock et al., 2003), TWIST1 in Saethre–Chotzen syndrome (Firulli et al., 2005), SIX1 in branchio-oto-renal syndrome (Ruf et al., 2004), NR5A1 in sex reversal (Tremblay and Viger, 2003), TBR1 in ASD (Deriziotis et al., 2014), BACH2 in immunodeficiency (Afzali et al., 2017), HNF1A and HNF4A in MODY (Hua et al., 2000; Singh et al., 2019), and SIM1 in obesity (Sullivan et al., 2014). Here, SOX9 is linked to campomelic dysplasia.