A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
N-糖基化障碍中的一种新表型:由ALG9致病变异引起的Gillessen-Kaesbach-Nishimura骨骼发育不良
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2015.91
Tham, Emma; Eklund, Erik A; Hammarsjö, Anna; Bengtson, Per; Geiberger, Stefan; Lagerstedt-Robinson, Kristina; Malmgren, Helena; Nilsson, Daniel; Grigelionis, Gintautas; Conner, Peter; Lindgren, Peter; Lindstrand, Anna; Wedell, Anna; Albåge, Margareta; Zielinska, Katarzyna; Nordgren, Ann; Papadogiannakis, Nikos; Nishimura, Gen; Grigelioniene, Giedre