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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Detalhes bibliográficos
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha: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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