A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

BACKGROUND: Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinical phenotype of WFS2 differs from WFS1 for the absence of diabetes insipidus...

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Hlavní autoři: Mozzillo, Enza, Delvecchio, Maurizio, Carella, Massimo, Grandone, Elvira, Palumbo, Pietro, Salina, Alessandro, Aloi, Concetta, Buono, Pietro, Izzo, Antonella, D’Annunzio, Giuseppe, Vecchione, Gennaro, Orrico, Ada, Genesio, Rita, Simonelli, Francesca, Franzese, Adriana
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121299/
https://ncbi.nlm.nih.gov/pubmed/25056293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-88
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