De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
KDM3B基因的新生突变和遗传致病变异会导致智力障碍、身材矮小和面部畸形
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.02.023
Diets, Illja J; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esmé; Reijnders, Margot R F; Dingemans, Alexander J M; Pfundt, Rolph; Vulto-van Silfhout, Anneke T; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B A; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y; Kuiper, Roland P; Jongmans, Marjolijn C J
