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A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G>A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case Report

2020-06-30

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold>Wolfram syndrome (WS) is a rare autosomal recessive disorder associated with early-onset diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and hearing impairment. Most patients with WS have mutations in the <italic>WFS1</italic> gene, which encodes wolframin. This case report describes a patient with a novel heterozygous mutation of <italic>WFS1...

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Literature Corpus work
3a36d351-6c32-528a-a0c0-aa6959746fce
DOI
10.21203/rs.3.rs-38184/v1
Open publication

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A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G&gt;A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case ReportDOI 10.21203/rs.3.rs-38184/v1
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