A homozygous missense mutation ofWFS1gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)-Reference-Cited by-同舟云学术

A homozygous missense mutation ofWFS1gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)

Published:2020-05-17 Issue:8 Volume:34 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Torkamandi Shahram¹,Rezaei Somaye²,Mirfakhraie Reza³^ORCID,Bayat Sahar⁴^ORCID,Piltan Samira³,Gholami Milad⁵⁶

Affiliation:

1. Department of Medical Genetics and Immunology Faculty of Medicine Urmia University of Medical Sciences Urmia Iran

2. Department of Neurology Imam Khomeini HospitalUrmia University of Medical Sciences Urmia Iran

3. Department of Medical Genetics Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran

4. Department of Medical Genetics Faculty of Medicine Tabriz University of Medical Sciences Tabriz Iran

5. Molecular and Medicine Research Center Arak University of Medical Sciences Arak Iran

6. Department of Biochemistry and Genetics School of Medicine Arak University of Medical Sciences Arak Iran

Funder

Arak University of Medical Sciences

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.23358

Reference18 articles.

1. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives

2. Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

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

4. Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome

5. Wolfram Syndrome: Diagnosis, Management, and Treatment

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1. WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome;BMC Medical Genomics;2023-04-11

2. A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1;Ophthalmic Genetics;2022-09-12

3. CYLD deficiency causes auditory neuropathy due to reduced neurite outgrowth;Journal of Clinical Laboratory Analysis;2021-05-02