Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.
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| Title: | Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy. |
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| Authors: | Roberts JP; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA., Tang AF; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA., Hernandez D; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.; Georgetown University School of Medicine, Washington, DC, USA., Carman B; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA., Oiknine L; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA., Brown C; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA., Hurst S; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA., Tang Y; Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.; Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA., Urano F; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA. urano@wustl.edu.; Department of Pathology and Immunology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA. urano@wustl.edu. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 18; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 18. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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