Associated Papers
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials
Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.
O'Bryhim BE et al.
American Journal of Ophthalmology, 2022
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.
Niu Z et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA et al.
Orphanet Journal of Rare Diseases, 2013
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