Article
GJB2 mutations: passage through Iran.
American journal of medical genetics. Part A - 1 Mar 2005
Najmabadi Hossein, Nishimura Carla, Kahrizi Kimia, Riazalhosseini Yasser, Malekpour Mahdi, Daneshi Ahmad, Farhadi Mohammad, Mohseni Marzieh, Mahdieh Nejat, Ebrahimi Ahmad, Bazazzadegan Niloofar, Naghavi Anoosh, Avenarius Matthew, Arzhangi Sanaz, Smith Richard J H
Abstract excerpt
Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.