bibliographicCitation |
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-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 C, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence of Genetic Heterogeneity. Human Mutation. 2012 Nov 27;34(2):296–300. doi: 10.1002/humu.22241. |