A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case

BMC Medical Genomics

Jafar Nouri Nojadeh¹  Mahmoud Shekari Khaniani¹  Sima Mansoori Derakhshan²  Tohid Ghasemnejad³ 

[1] Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran;Neurosciences Research Center, Tabriz University of Medical Sciences, Tabriz, Iran;Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran;Neurosciences Research Center, Tabriz University of Medical Sciences, Tabriz, Iran;Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran;Molecular Medicine Research Center, Biomedicine Institute, Tabriz University of Medical Sciences, Tabriz, Iran;

关键词: Hearing loss;    Consanguineous marriage;    NGS;    ESRRB;    ARNSHL;    Iran;   

DOI  :  10.1186/s12920-022-01165-4

来源: Springer

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