Associated Papers
Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.
Jurca AD et al.
Medicina (kaunas, Lithuania), 2024
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J et al.
Ophthalmology, 2016
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Chaussenot A et al.
Clinical Genetics, 2015
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