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Wolfram Syndrome with a Rare Genetic Mutation - Case Report

Overview
Specialty Ophthalmology
Date 2022 Jul 6
PMID 35791237
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References
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Ganie M, Laway B, Nisar S, Wani M, Khurana M, Ahmad F . Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. Diabet Med. 2011; 28(11):1337-42. DOI: 10.1111/j.1464-5491.2011.03377.x. View

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Galvez-Ruiz A, Galindo-Ferreiro A, Schatz P . Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for . Neuroophthalmology. 2018; 42(2):73-82. PMC: 5858862. DOI: 10.1080/01658107.2017.1344252. View

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Celmeli G, Turkkahraman D, Curek Y, Houghton J, Akcurin S, Bircan I . Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A). J Clin Res Pediatr Endocrinol. 2016; 9(1):80-84. PMC: 5363171. DOI: 10.4274/jcrpe.2894. View