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
在患有精神运动迟缓和先天性小脑发育不全的患者中，新生 X;8 易位产生 PTK2-THOC2 基因融合，并导致 THOC2 表达降低
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2013-101542
Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Ludovica Verdun di Cantogno, Enrico Grosso, Simona Cavalieri, Alessandro Calcia, Daniela Lacerenza, Orsetta Zuffardi, Saverio Francesco Retta, Giovanni Stevanin, Cecilia Marelli, Alexandra Durr, Sylvie
