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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394712/ https://www.ncbi.nlm.nih.gov/pubmed/22792385 http://dx.doi.org/10.1371/journal.pone.0040604 |
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