alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...

background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

Wilson’s disease is a rare, autosomal recessive, genetic, copper overload disease, which evokes multiple motor or neuropsychiatric symptoms and liver disease. It is the consequence of a variety of different mutations affecting the ATP7B gene. This gene encodes for a class IB, P-type, copper-transporting ATPase, which is located in the trans-Golgi network of the liver and brain, and mediates the...