eIF2B-related multisystem disorder in two sisters with atypical presentations. [electronic resource]
- European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Mar 2017
- 404-409 p. digital
Publication Type: Case Reports; Journal Article
1532-2130
10.1016/j.ejpn.2016.07.010 doi
Adolescent Child, Preschool Eukaryotic Initiation Factor-2B--genetics Female Heterozygote Humans Leukoencephalopathies--genetics Magnetic Resonance Imaging Male Neuroimaging Pedigree Siblings