مغنی باشی, مهدی

[ 1 ] - طیف جهش های ژن GJB2 در نانوایان غیر سندرومی آتوزومی مغلوب در استان یزد

Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...