1. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Issue 8 (7th June 2013) Authors: Di Gregorio, Eleonora; Bianchi, Federico T; Schiavi, Alfonso; Chiotto, Alessandra M A; Rolando, Marco; Verdun di Cantogno, Ludovica; Grosso, Enrico; Cavalieri, Simona; Calcia, Alessandro; Lacerenza, Daniela; Zuffardi, Orsetta; Retta, Saverio Francesco; Stevanin, Giovanni; Marelli, Cecilia; Durr, ... Journal: Journal of medical genetics Issue: Volume 50:Issue 8(2013) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗