Article
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
2 Jul 2019
Abstract excerpt
BACKGROUND: Recessive 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 goiter as part of Pendred syndrome. A haplotype of variants upstream of SLC26A4, called CEVA, acts as a pathogenic recessive allele in trans to mutations affecting the coding...
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