SOX2 and Esophageal atresia: Monogenetic causes account for a minority of EA/TEF cases (<5%), most often in syndromic cases, such as anophthalmia-esophageal-genital (AEG) syndrome (SOX2 mutations), Feingold syndrome (MYCN mutations), CHARGE syndrome (CHD7 mutations), Pallister–Hall syndrome (GLI3 mutations) and mandibulofacial dysostosis (EFTUD2 mutations) (Stoll et al., 2009).