Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome

Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome

ObjectivesThe aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients.MethodsWe investigated the ge...

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Bibliographic Details
Main Authors: Nasrin Yazdanpanahi, Mohammad Amin Tabatabaiefar, Effat Farrokhi, Narges Abdian, Nader Bagheri, Shirin Shahbazi, Zahra Noormohammadi, Morteza Hashemzadeh Chaleshtori
Format: Article
Language:English
Published: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013-12-01
Series:Clinical and Experimental Otorhinolaryngology
Subjects:
Novel mutation
Compound heterozygosity
SLC26A4
Pendred syndrome
Hearing loss
Linkage analysis
Iran
Online Access:http://www.e-ceo.org/upload/pdf/ceo-6-201.pdf

Internet

http://www.e-ceo.org/upload/pdf/ceo-6-201.pdf

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