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

Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole e...

Full description

Bibliographic Details
Main Authors: Soudeh Ghafouri-Fard, Majid Fardaei, Seyed Mohammad Bagher Tabei, Mehdi Dianatpour, Mohammad Miryounesi
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2018-01-01
Series:International Journal of Pediatrics
Subjects:
Cadherin-3
Gene
Mutation
Online Access:http://ijp.mums.ac.ir/article_9686_4366b37f036e42acc6579501eb0631f1.pdf

Internet

http://ijp.mums.ac.ir/article_9686_4366b37f036e42acc6579501eb0631f1.pdf

Similar Items