A Novel Mutation of SCL26A4 gene in Turkish Family with Pendred Syndrome

A Novel Mutation of SCL26A4 gene in Turkish Family with Pendred Syndrome

Aim: This study aimed to investigate the molecular testing of congenital hearing loss by using next generation sequencing technology. Pendred syndrome (PS) is described by severe bilateral sensorineural hearing loss with goiter. The mutations of SCL26A4 gene can cause PS.Material and Method: We eval...

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Bibliographic Details
Main Authors: Ozgur Aldemir, Kadri Karaer, Cengiz Cevik, Haldun Dogan, Cumali Gokce
Format: Article
Language:English
Published: Mustafa Kemal University 2015-06-01
Series:Mustafa Kemal Üniversitesi Tıp Dergisi
Subjects:
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Pendred Sendromu
Kongenital İşitme
Online Access:http://dergipark.gov.tr/mkutfd/issue/19601/209478?publisher=mku

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