TP63 and exstrophy-epispadias complex: Furthermore, a fourth premature patient with a phenotype overlapping between EEC and AEC syndromes was found to have a pathogenic missense variant, NM_003722.4:c.1681T>C, p.(Cys561Arg), affecting the SAM domain of TP63 [9], despite the fact that variants in the SAM domain are typically associated with AEC syndrome [6].