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Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.

Diabetes & metabolism - 1 Nov 2015

Papadimitriou D T, Manolakos E, Bothou C, Zoupanos G, Papoulidis I, Orru S, Skarmoutsos F, Delides A, Bakoula C, Papadimitriou A, Urano F

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Share to Chromosomes, Human, Pair 4
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26169481
DOI: 10.1016/j.diabet.2015.06.003

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.PMID 26169481Read ↗

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Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.Semantic proximity Read ↗

First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.Semantic proximity Read ↗

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Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.Semantic proximity Read ↗

Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.Semantic proximity Read ↗

A novel WFS1 variant associated with isolated congenital cataracts.Semantic proximity Read ↗

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.Semantic proximity Read ↗

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Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.Semantic proximity Read ↗

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.Semantic proximity Read ↗

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