Article

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

2025-12-16

Abstract excerpt

<title>Abstract</title> <p> Objective: Autosomal dominant pathogenic variants in the <italic>WFS1</italic> gene can cause a broad spectrum of Autosomal dominant <italic>WFS1</italic> -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 l...

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Literature Corpus work: 3b745229-bf58-5459-a500-43ae6184a727
DOI: 10.21203/rs.3.rs-8022951/v1

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