Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. [electronic resource]
Producer: 20120409Description: 141-3 p. digitalISSN:- 1879-0038
- 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
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Publication Type: Case Reports; Journal Article
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