Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

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Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 27 July 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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Clinical and Molecular Genetic ...... ovel WFS1 Mutation (c.2534T>A)

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Clinical and Molecular Genetic ...... yndrome: A Novel WFS1 Mutation

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Clinical and Molecular Genetic ...... ovel WFS1 Mutation (c.2534T>A)

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Clinical and Molecular Genetic ...... yndrome: A Novel WFS1 Mutation

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Clinical and Molecular Genetic ...... ovel WFS1 Mutation (c.2534T>A)

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Clinical and Molecular Genetic ...... yndrome: A Novel WFS1 Mutation

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Clinical and Molecular Genetic ...... ovel WFS1 Mutation (c.2534T>A)

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Doğa Türkkahraman

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Gamze Çelmeli

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Jayne Houghton

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Sema Akçurin

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Yusuf Çürek

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İffet Bircan

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Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Wolfram syndrome: new mutations, different phenotype

Psychiatric findings in Wolfram syndrome homozygotes.

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

Molecular characterization of WFS1 in patients with Wolfram syndrome

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.

Wolfram syndrome and WFS1 gene.

Wolfram syndrome 1 and Wolfram syndrome 2.

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells.

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80-84

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scholarly article

case report

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10.4274/JCRPE.2894

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P478

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2016-07-27T00:00:00Z

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27468121

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5363171

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