De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
LMNB1基因的新生变异导致明显的综合征性小头畸形和核膜完整性破坏
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.08.015
Cristofoli, Francesca; Moss, Tonya; Moore, Hannah W; Devriendt, Koen; Flanagan-Steet, Heather; May, Melanie; Jones, Julie; Roelens, Filip; Fons, Carmen; Fernandez, Anna; Martorell, Loreto; Selicorni, Angelo; Maitz, Silvia; Vitiello, Giuseppina; Van der Hoeven, Gerd; Skinner, Steven A; Bollen, Mathieu; Vermeesch, Joris R; Steet, Richard; Van Esch, Hilde