Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome-Reference-Cited by-同舟云学术

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Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome

Published:2016-09 Issue: Volume:9 Page:219-224
ISSN:2214-5400
Container-title:Meta Gene
language:en
Short-container-title:Meta Gene

Author:

Bodoor Khaldon,Batiha Osama,Abu-Awad Ayman,Al-Sarihin Khaldon,Ziad Haya,Jarun Yousef,Abu-sheikha Aya,Abu Jalboush Sara,Alibrahim Khoulod S.

Funder

Jordan University of Science and Technology

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Wolfram syndrome: new mutations, different phenotype;Aloi;PLoS One,2012

2. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2;Amr;Am. J. Hum. Genet.,2007

3. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome;Barrett;Lancet,1995

4. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion;Barrientos;Am. J. Hum. Genet.,1996

5. Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients;Blanco-Aguirre;Gene,2015

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters;American Journal of Ophthalmology Case Reports;2022-06

2. Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations;European Journal of Endocrinology;2022-02-01

3. Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects;Journal of Ophthalmic and Vision Research;2021-10-25

4. Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis;Journal of Clinical Research in Pediatric Endocrinology;2021-02-26

5. Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report;BMC Medical Genetics;2017-12

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