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Article

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

International journal of pediatric otorhinolaryngology - 1 Mar 2013

de Moraes Vanessa Cristine Sousa, dos Santos Nathalia Zocal Pereira, Ramos Priscila Zonzini, Svidnicki Maria Carolina Costa Melo, Castilho Arthur Menino, Sartorato Edi Lúcia

Abstract excerpt

UNLABELLED: The SLC26A4 gene has been described as the second gene involved in most cases of sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss associated with an enlarged vestibular aqueduct (EVA) and Pendred syndrome, which causes early hearing loss and affects...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23273637
DOI: 10.1016/j.ijporl.2012.11.042

Genes

GJB2

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Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.PMID 23273637Read ↗

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