Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell’Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. (2012) Mutations in the PCNA-binding domain ofCDKN1C cause IMAGe syndrome. Nat Genet. 44(7):788-92.