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Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease. The pathogenesis of Wolfram syndrome involves abnormalities in the endoplasmic re...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6889680/ https://www.ncbi.nlm.nih.gov/pubmed/31796109 http://dx.doi.org/10.1186/s13023-019-1260-9 |