De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
新发杂合 POLR2A 变异导致神经发育综合征,伴有严重的婴儿期肌张力低下
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.06.016
Hanneke A Haijes, Maria J E Koster, Holger Rehmann, Dong Li, Hakon Hakonarson, Gerarda Cappuccio, Miroslava Hancarova, Daphne Lehalle, Willie Reardon, G Bradley Schaefer, Anna Lehman, Ingrid M B H van de Laar, Coranne D Tesselaar, Clesson Turner, Alice Goldenberg, Sophie Patrier, Julien Thevenon, Mi