Compound Heterozygosity for Two NovelSLC26A4Mutations in a Large Iranian Pedigree with Pendred Syndrome-Reference-Cited by-同舟云学术

Compound Heterozygosity for Two NovelSLC26A4Mutations in a Large Iranian Pedigree with Pendred Syndrome

Published:2013 Issue:4 Volume:6 Page:201
ISSN:1976-8710
Container-title:Clinical and Experimental Otorhinolaryngology
language:en
Short-container-title:Clin Exp Otorhinolaryngol

Author:

Yazdanpanahi Nasrin¹,Tabatabaiefar Mohammad Amin²³,Farrokhi Effat²,Abdian Narges²,Bagheri Nader²,Shahbazi Shirin²,Noormohammadi Zahra⁴,Chaleshtori Morteza Hashemzadeh²

Affiliation:

1. Department of Biochemistry, Falavarjan Branch, Islamic Azad University, Isfahan, Iran.

2. Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.

3. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

4. Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.

Publisher

Korean Society of Otorhinolaryngology-Head and Neck Surgery

Subject

Otorhinolaryngology,Surgery

Link

http://synapse.koreamed.org/pdf/10.3342/ceo.2013.6.4.201

Reference26 articles.

1. Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

2. Genetics and phenomics of Pendred syndrome

3. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

4. Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

5. Radiological malformations of the ear in pendred syndrome

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