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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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Detalles Bibliográficos
Autores principales: Samara, Amjad, Rahn, Rachel, Neyman, Olga, Park, Ki Yun, Samara, Ahmad, Marshall, Bess, Dougherty, Joseph, Hershey, Tamara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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