An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.
Hata, Yukiko
An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region. [electronic resource] - International journal of clinical and experimental pathology 2014 - 3355-62 p. digital
Publication Type: Case Reports; Journal Article
1936-2625
Age of Onset
Autopsy
Brain--pathology
Child, Preschool
Eukaryotic Initiation Factor-2B--genetics
Hemizygote
Humans
Infant
Leukoencephalopathies--genetics
Male
Mutation
An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region. [electronic resource] - International journal of clinical and experimental pathology 2014 - 3355-62 p. digital
Publication Type: Case Reports; Journal Article
1936-2625
Age of Onset
Autopsy
Brain--pathology
Child, Preschool
Eukaryotic Initiation Factor-2B--genetics
Hemizygote
Humans
Infant
Leukoencephalopathies--genetics
Male
Mutation