Associated Papers
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
Abu-El-Haija A et al.
American Journal of Medical Genetics. Part A, 2021
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.
Morikawa S et al.
Pediatric Diabetes, 2017
Select a paper to view details