Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
NAE1 中的双等位基因变异会导致智力障碍、坐骨耻骨发育不全、应激介导的淋巴细胞减少和神经退行性疾病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.12.003
Irena J J Muffels, Imre F Schene, Holger Rehmann, Maarten P G Massink, Maria M van der Wal, Corinna Bauder, Martha Labeur, Natalia G Armando, Maarten H Lequin, Michiel L Houben, Jaques C Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V Shailee, Yuri A Za