Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
RNA 解旋酶 DDX6 中罕见的新生错义变异会导致智力障碍和畸形特征,并导致 P 体缺陷和 RNA 失调
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.07.010
Chris Balak, Marianne Benard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult-Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maité Courel, Marcus Naymik, Kristine K Bachman, Rolph Pfundt, Patrick Rump, Johanna Ter Beest, Ingrid M Wentzensen, Kristin G Monaghan, Kirsty McWal