ناصری, فرنوش

[ 1 ] - گزارش یک مورد جهش جدید مرتبط با بیماری Dentinogenesis Imperfecta در بیماری با ضعف شنوایی

Dentinogenesis imperfecta (DI) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. Mutation in dentin and the main gene in this disease is DSPP. Heterozygous mutations in this gene cause tooth sialophosphoprotein (DSPP) causes dentin disorders DI I and II. Imperfecta is a dominant autosomal trait that affec...