Moreover, TFAP2B loss of function variants have been linked to Char syndrome with variable expressivity of PDA (Mani et al., 2005), familial and non-familial isolated PDA (Khetyar et al., 2008; Chen et al., 2011; Xiong et al., 2013; Ji et al., 2014) and syndromic craniosynostosis (Timberlake et al., 2019). This evidence concerns the gene TFAP2B and craniosynostosis.