Article
Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms and <i>WFS1</i> Gene Variant Types
2026-03-26
Abstract excerpt
Wolfram syndrome is a rare genetic disorder characterized by antibody-negative early-onset atypical diabetes mellitus, optic nerve atrophy, sensorineural hearing loss, diabetes insipidus (arginine vasopressin deficiency), and progressive neurodegeneration, with significant variability in disease severity. We assessed the accuracy of a genotype-based severity scoring system to predict the onset of cardinal symptoms...
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Identifiers and source
- Literature Corpus work
- 74818531-ed16-5501-86fb-52f9572c2974
- DOI
- 10.64898/2026.03.24.26349216
