TY  - GEN
AU  - Esmer,Carmen
AU  - Blanco Hernández,Gabriela
AU  - Saavedra Alanís,Víctor
AU  - Reyes Vaca,Jorge Guillermo
AU  - Bravo Oro,Antonio
TI  - [Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy]
SN  - 1665-1146
PY  - 2019///0501
KW  - Child
KW  - Child, Preschool
KW  - Eukaryotic Initiation Factor-2B
KW  - genetics
KW  - Exons
KW  - Fatal Outcome
KW  - Humans
KW  - Infant
KW  - Leukoencephalopathies
KW  - diagnosis
KW  - Magnetic Resonance Imaging
KW  - methods
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Tomography, X-Ray Computed
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.bmhimx.2017.07.002
ER  -