Review paper

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

Volume: 42, Issue: 2, Pages: 159 - 165
Published: Feb 1, 2005
Abstract
Enlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic malformation of the inner ear associated with sensorineural hearing loss.1 It may occur alone or in combination with an incomplete partition of the apical turn of the cochlea as part of a complex of malformations known as a Mondini deformity.2 Hearing loss in ears with EVA is typically pre- or perilingual in onset,...
Paper Details
Title
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
Published Date
Feb 1, 2005
Volume
42
Issue
2
Pages
159 - 165
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