Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 muta...
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Contents
Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of these mutations is important for accurate diagnosis, proper medical management and appropriate genetic counseling and requires updated information regarding spectrum, clin...
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Full title
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4521295
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4521295
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2014.12
