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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...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Samara, Amjad, Rahn, Rachel, Neyman, Olga, Park, Ki Yun, Samara, Ahmad, Marshall, Bess, Dougherty, Joseph, Hershey, Tamara
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6889680/
https://ncbi.nlm.nih.gov/pubmed/31796109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1260-9
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