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

Abstract Objective Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss, non-syndromic diabetes mellitus, and...

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Principais autores:	Jessica P. Roberts, Abby F. Tang, Daniela Hernandez, Brianna Carman, Liam Oiknine, Cris Brown, Stacy Hurst, Yunshuo Tang, Fumihiko Urano
格式:	Artigo
語言:	Inglês
出版:	BMC 2026-04-01
叢編:	Orphanet Journal of Rare Diseases
在線閱讀:	https://doi.org/10.1186/s13023-026-04348-9
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