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[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)]

open access: yes, 2002
Contains fulltext : 144601.pdf (Publisher’s version ) (Open Access)Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic atrophy.
Cremers, C.W.R.J.   +3 more
core  

Redefining Wolfram Syndrome in the Molecular Era

open access: yes, 2013
Wolfram syndrome is a progressive neurodegenerative disorder that was historically defined by a cluster of common clinical manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD).
Patrick Yu-Wai-Man; Grant Guthrie; Kamil S. Sitarz; Angela Pyle; Rita Horvath; Philip G. Griffiths; Patrick F. Chinnery
core  

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report. [PDF]

open access: yesJ Med Case Rep, 2023
Sahli M   +6 more
europepmc   +1 more source

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