De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
VPS4A 新发突变导致多系统疾病和神经发育异常
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.10.012
Catherine Rodger, Elisabetta Flex, Rachel J Allison, Alba Sanchis-Juan, Marcia A Hasenahuer, Serena Cecchetti, Courtney E French, James R Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles; Genomics England Research Consortium; Roberta Onesimo, Giuseppe Zampino, F
