A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

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作者： Afsaneh,Taghipour-Sheshdeh ^[1] ; Fatemeh,Nemati-Zargaran ^[1] ; Narges,Zarepour ^[1] ; Parisa,Tahmasebi ^[2] ; Nader,Saki ^[3] ; Mohammad Amin,Tabatabaiefar ^[4] ; Javad,Mohammadi-Asl ^[5] ; Morteza,Hashemzadeh-Chaleshtori ^[6]

作者单位： Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran. ^[1] Department of Biology, Faculty of Sciences, Ilam University, Ilam, Iran. ^[2] Hearing Research Center, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. ^[3] Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. ^[4] Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Electronic address: mohammadi-asl@ajums.ac.ir. ^[5] Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran. Electronic address: mchalesh@yahoo.com. ^[6]

关键词 ARNSHL DFNB loci Genetic linkage analysis NGS