[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy].
Esmer, Carmen
[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy]. [electronic resource] - Boletin medico del Hospital Infantil de Mexico - 364-369 p. digital
Publication Type: Case Reports; Journal Article
1665-1146
10.1016/j.bmhimx.2017.07.002 doi
Child
Child, Preschool
Eukaryotic Initiation Factor-2B--genetics
Exons
Fatal Outcome
Humans
Infant
Leukoencephalopathies--diagnosis
Magnetic Resonance Imaging--methods
Male
Mutation
Phenotype
Tomography, X-Ray Computed--methods
[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy]. [electronic resource] - Boletin medico del Hospital Infantil de Mexico - 364-369 p. digital
Publication Type: Case Reports; Journal Article
1665-1146
10.1016/j.bmhimx.2017.07.002 doi
Child
Child, Preschool
Eukaryotic Initiation Factor-2B--genetics
Exons
Fatal Outcome
Humans
Infant
Leukoencephalopathies--diagnosis
Magnetic Resonance Imaging--methods
Male
Mutation
Phenotype
Tomography, X-Ray Computed--methods