Primary diagnosis of Wolfram syndrome in an adult patient — Case report and description of a novel pathogenic mutation-Reference-Cited by-同舟云学术

Primary diagnosis of Wolfram syndrome in an adult patient — Case report and description of a novel pathogenic mutation

Published:2011-01 Issue:1-2 Volume:300 Page:191-193
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Waschbisch Anne,Volbers Bastian,Struffert Tobias,Hoyer Juliane,Schwab Stefan,Bardutzky Juergen

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference13 articles.

1. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome;Barrett;Lancet,1995

2. Lesperance MM. WFS1 Gene Mutation and Polymorphism Database. www.khri.med.umich.edu/research/lesperance_lab/low_freq.php [internet database, accessed April 27, 2010].

3. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease;Cryns;Hum Mutat,2003

4. Wolframin mutations and hospitalization for psychiatric illness;Swift;Mol Psychiatry,2005

5. PolyPhen. http://genetics.bwh.harvard.edu/pph/.

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