Sara Mirzajani
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
[ 1 ] - Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
نویسندگان همکار