Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Marini, Carla, Hardies, Katia, Pisano, Tiziana, May, Patrick, Weckhuysen, Sarah, Cellini, Elena, Suls, Arvid, Mei, Davide, Balling, Rudi, Jonghe, Peter D., Helbig, Ingo, Garozzo, Domenico, Guerrini, RVolume:
173
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38112
Date:
April, 2017
File:
PDF, 696 KB
english, 2017