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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
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 inner ear...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941635/ https://www.ncbi.nlm.nih.gov/pubmed/29739340 http://dx.doi.org/10.1186/s12881-018-0585-x |