De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

• 期刊名称The American Journal of Human Genetics
• 作者Haijes, Hanneke A.; Koster, Maria J.E.; Rehmann, Holger; Li, Dong; Hakonarson, Hakon; Cappuccio, Gerarda; Hancarova, Miroslava; Lehalle, Daphne; Reardon, Willie; Schaefer, G. Bradley; Lehman, Anna; van de Laar, Ingrid M.B.H.; Tesselaar, Coranne D.; Turner, Clesson; Goldenberg, Alice; Patrier, Sophie; Thevenon, Julien; Pinelli, Michele; Brunetti-Pierri, Nicola; Prchalová, Darina; Havlovicová, Markéta; Vlckova, Markéta; Sedláček, Zdeněk; Lopez, Elena; Ragoussis, Vassilis; Pagnamenta, Alistair T.; Kini, Usha; Vos, Harmjan R.; van Es, Robert M.; van Schaik, Richard F.M.A.; van Essen, Ton A.J.; Kibaek, Maria; Taylor, Jenny C.; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Fagerberg, Christina; Martin, Donna M.; van Gassen, Koen L.I.; Pfundt, Rolph; Falk, Marni J.; McCormick, Elizabeth M.; Timmers, H.T. Marc; van Hasselt, Peter M.
• 印刷ISSN0002-9297
• 文件大小2506.28KB
• 发表时间2019-7
• DOI10.1016/j.ajhg.2019.06.016