Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

Alsalem, Ahmed

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. [electronic resource] - Gene Apr 2012 - 141-3 p. digital

Publication Type: Case Reports; Journal Article

1879-0038

10.1016/j.gene.2011.12.047 doi


Adrenal Insufficiency--metabolism
Adrenoleukodystrophy--diagnosis
Alleles
Brain--pathology
Child, Preschool
Eukaryotic Initiation Factor-2B--genetics
Female
Homozygote
Humans
Leukoencephalopathies--diagnosis
Magnetic Resonance Imaging--methods
Models, Molecular
Molecular Conformation
Mutation, Missense
Phenotype