Importantly, mutations in human TFAP2A and TFAP2B, are also linked to the human conditions Branchio-Oculo-Facial Syndrome (Milunsky et al., 2008) and Char Syndrome (Satoda et al., 2000) respectively, conditions which both have a craniofacial component. This evidence concerns the gene TFAP2A and Branchio-oculo-facial syndrome.