Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in theWFS1gene
Author:
Publisher
Wiley
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1464-5491.2008.02448.x/fullpdf
Reference23 articles.
1. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease;Cryns;Hum Mutat,2003
2. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease;Domenech;Pediatr Endocrinol Rev,2006
3. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss;Bespalova;Hum Mol Genet,2001
4. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss;Lesperance;Arch Otolaryngol Head Neck Surg,2003
5. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations;Minton;Diabetes,2002
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2. Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum;Survey of Ophthalmology;2023-07
3. Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production;Cell Death & Disease;2023-06-29
4. Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants;Frontiers in Endocrinology;2023-03-07
5. A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations;2023-02-10
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