Roberts JP

No ORCID on file · 1 paper in corpus · active 2026
2026
Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.
Orphanet journal of rare diseases ·doi:10.1186/s13023-026-04348-9

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 sensorineura…