SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
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DOI: 10.1186/s12881-019-0853-4
Abstract: BackgroundRecessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular… read more here.
Keywords: regions splice; splice sites; mutations affecting; coding regions ... See more keywords