Article

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders

2023-02-16

Abstract excerpt

<h4>Objective</h4> Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which would assist clinicians in classifying the severity and prognosis of Wolfram syndrome more accurately. <h4>Ap...

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Literature Corpus work: 747ef350-8415-50a2-b5bb-da328b66ef7d
DOI: 10.1101/2023.02.15.23284904

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