Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome

被引：0
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作者：
Marziyeh Hoseinzadeh [1 ]
Mohammad Mehdi Jahani [2 ]
Samane Nasrniya [2 ]
Mohammad Amin Tabatabaiefar [3 ]
机构：
[1] Isfahan University of Medical Sciences,Department of Genetics and Molecular Biology, School of Medicine
[2] Harmonic Medical Genetics Lab,Department of Research and Development
[3] Shahid Beheshti University of Medical Sciences,Department of Medical Genetics, School of Medicine
[4] Isfahan Endocrine and Metabolism Research Center,Pediatric Inherited Diseases Research Center
[5] Isfahan University of Medical Sciences,undefined
[6] Research Institute for Primordial Prevention of Noncommunicable Disease,undefined
[7] Isfahan University of Medical Sciences,undefined
来源：
Egyptian Journal of Medical Human Genetics | / 26卷 / 1期
关键词：
Wolfram syndrome (WS); gene; Wolframin;
D O I：
10.1186/s43042-025-00657-z
中图分类号：
学科分类号：
摘要：
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