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Early Brain Vulnerability in Wolfram Syndrome

Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic...

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Autori principali: Hershey, Tamara, Lugar, Heather M., Shimony, Joshua S., Rutlin, Jerrel, Koller, Jonathan M., Perantie, Dana C., Paciorkowski, Alex R., Eisenstein, Sarah A., Permutt, M. Alan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3394712/
https://ncbi.nlm.nih.gov/pubmed/22792385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0040604
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