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A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)
Authors:Shahram Torkamandi  Somaye Rezaei  Reza Mirfakhraie  Sahar Bayat  Samira Piltan  Milad Gholami
Affiliation:1. Department of Medical Genetics and Immunology, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran;2. Department of Neurology, Imam Khomeini Hospital, Urmia 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
Abstract:
Keywords:gene  homozygous  mutation  WFS1  Wolfram's syndrome
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