Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisan-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. (2013). Kohlschutter-Tonz syndrome: Mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat Feb;34(2):296-300. Epub 2012 Nov 27.
