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 …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …

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

Abstract Objectives/Hypothesis: Identify correlations among SLC26A4 genotype, cochlear
structural anomalies, and hearing loss associated with enlargement of the vestibular …

Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing
loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This …

OBJECTIVE: We have characterized the spectrum of SLC26A4 mutations and clinical
features in a population of mainland Chinese patients with nonsyndromic 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 …

Objectives/Hypothesis To characterize the severity and natural history of hearing loss, and
the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged …

Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …

The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the
homeostasis of the ion concentration of the endolymph of the inner ear, most likely by acting …