Volume 12 (2024)
Volume 11 (2023)
Volume 10 (2022)
Volume 9 (2021)
Volume 8 (2020)
Volume 7 (2019)
Volume 6 (2018)
Volume 5 (2017)
Volume 4 (2016)
Volume 3 (2015)
Volume 2 (2014)
Volume 1 (2013)
Author = Ghafouri-Fard, Soudeh
Number of Articles: 4
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Volume 6, Issue 2 , February 2018, , Pages 7033-7037
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
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
Volume 6, Issue 1 , January 2018, , Pages 6899-6902
Abstract
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive ... Read More
A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
Volume 6, Issue 1 , January 2018, , Pages 6999-7002
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
A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Volume 4, Issue 2 , February 2016, , Pages 1315-1318