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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects

Abstract Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the i...

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Main Authors: Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto
Format: Artigo
Language:Inglês
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
Hereditary deafness
SLC26A4
Pendrin gene
Brazil
Online Access:http://link.springer.com/article/10.1186/s12881-018-0585-x
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