The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes
for the anion exchanger pendrin, are population-specific and account for at least 50% of …

Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as
a manifestation of Pendred syndrome (PS) with an iodide organification defect or …

There is a worldwide interest in studying SLC26A4 mutations that are responsible for
enlarged vestibular aqueduct (EVA) in different ethnic background and populations. The …

Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …

Background The enlarged vestibular aqueduct (EVA), associated with mutations in the
SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive …

Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …

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 …

Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic
enlargement of the vestibular aqueduct, two conditions associated with sensorineural …

Background: Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an
autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA …

The SLC26A4 gene has been described as the second gene involved in most cases of
sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive …