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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.
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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  Data: Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.
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  Data: <searchLink fieldCode="AU" term="%22Roberts+JP%22">Roberts JP</searchLink>; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Tang+AF%22">Tang AF</searchLink>; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Hernandez+D%22">Hernandez D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Carman+B%22">Carman B</searchLink>; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Oiknine+L%22">Oiknine L</searchLink>; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Brown+C%22">Brown C</searchLink>; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Hurst+S%22">Hurst S</searchLink>; Division of Endocrinology, Department of Medicine, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Tang+Y%22">Tang Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Urano+F%22">Urano F</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Apr 18; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Apr 18.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s13023-026-04348-9
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              Text: 2026 Apr 18
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