eIF2B-related multisystem disorder in two sisters with atypical presentations.

Lee, Jin Sook

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