Associated Papers
Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.
Jurca AD et al.
Medicina (kaunas, Lithuania), 2024
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
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
Lin CW et al.
Genes, 2021
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z et al.
Bmc Endocrine Disorders, 2021
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
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
Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.
Zmyslowska A et al.
Clinical Endocrinology, 2011
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
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