Article

Natural history of patients with autosomal dominant<i>WFS1</i>pathogenic variants associated with sensorineural hearing loss and optic atrophy

2025-02-25

Abstract excerpt

<h4>Objective</h4> Autosomal dominant pathogenic variants in the WFS1 gene can cause a broad spectrum of WFS1-related disorders. These disorders present with a range of phenotypic manifestations, including isolated low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss, isolated diabetes mellitus, and early-onset cataracts. In general, WFS1-rel...

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Literature Corpus work: a51b021b-53c2-590f-8429-98c14a3a8ef3
DOI: 10.1101/2025.02.23.25322342

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