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Keywords = Gene

Number of Articles: 2
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease

Sara Mirzajani; Mehdi Mohebi; Mohammad Miryounesi; Vahid Reza Yassaee; Soudeh Ghafouri-Fard

Volume 6, Issue 2 , February 2018, , Pages 7033-7037

https://doi.org/10.22038/ijp.2017.27282.2352

Abstract
  BackgroundAutosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease.Case ReportIn the ...  Read More
A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy

Soudeh Ghafouri-Fard; Majid Fardaei; Seyed Mohammad Bagher Tabei; Mehdi Dianatpour; Mohammad Miryounesi

Volume 6, Issue 1 , January 2018, , Pages 6999-7002

https://doi.org/10.22038/ijp.2017.27276.2350

Abstract
  BackgroundsHypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. ResultsIn the present study, we reported ...  Read More