Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L, Bramanti P, Di Bella C, De Luca F.
Pediatr Res. 2018 May;83(5):921-929. doi: 10.1038/pr.2018.17. Epub 2018 Feb 28.
PMID:29774890
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
Safarpour Lima B, Ghaedi H, Daftarian N, Ahmadieh H, Jamshidi J, Khorrami M, Noroozi R, Sohrabifar N, Assarzadegan F, Hesami O, Taghavi S, Ahmadifard A, Atakhorrami M, Rahimi-Aliabadi S, Shahmohammadibeni N, Alehabib E, Andarva M, Darvish H, Emamalizadeh B.
Eur J Med Genet. 2016 Feb;59(2):65-9. doi: 10.1016/j.ejmg.2016.01.001. Epub 2016 Jan 7.