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    The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

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    URI
    http://hdl.handle.net/11287/619052
    Author
    Hamilton, Alexander J.
    Bingham, Coralie
    McDonald, Timothy J.
    Cook, P. R.
    Caswell, Richard C.
    Weedon, M. N.
    Oram, Richard A.
    Shields, Beverley M.
    Shepherd, Maggie
    Inward, C. D.
    Hamilton-Shield, J. P.
    Kohlhase, J.
    Ellard, Sian
    Hattersley, Andrew T.
    Date
    2014-03
    Journal
    Journal of medical genetics
    Type
    Case Report
    Research Support, Non-U.S. Gov't
    Publisher
    BMJ
    DOI
    10.1136/jmedgenet-2013-102066
    Rights
    Archived with thanks to Journal of medical genetics
    Metadata
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    Abstract
    Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cause has been defined.
    Citation
    The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 2014, 51 (3):165-9 J. Med. Genet.
    Publisher URL
    http://jmg.bmj.com/content/51/3/165.long
    Note
    This article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text from the publisher's site.
    Collections
    • Diabetes and endocrinology
    • Honorary contracts publications
    • pre-2014 RD&E publications
    • Renal and nephrology services (kidneys)

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