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    Three cases of Wolfram syndrome with different clinical aspects.

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    URI
    http://hdl.handle.net/11287/618197
    Author
    Çamtosun, E.
    Şıklar, Z.
    Kocaay, P.
    Ceylaner, S.
    Flanagan, Sarah
    Ellard, Sian
    Berberoğlu, M.
    Date
    2015-03
    Journal
    Journal of pediatric endocrinology & metabolism : JPEM
    Type
    Journal Article
    Case Report
    Publisher
    De Gruyter
    DOI
    10.1515/jpem-2014-0139
    Rights
    Archived with thanks to Journal of pediatric endocrinology & metabolism : JPEM
    Metadata
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    Abstract
    Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.
    Citation
    Three cases of Wolfram syndrome with different clinical aspects. 2015, 28 (3-4):433-8 J. Pediatr. Endocrinol. Metab.
    Publisher URL
    http://www.degruyter.com/doi/10.1515/jpem-2014-0139
    Collections
    • 2015 RD&E publications
    • Honorary contracts publications
    • Molecular Genetics

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