Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations
in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to …

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

Background To investigate the genetic causes of hearing loss in patients with enlarged
vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed …

Objective To investigate the genetic causes of hearing loss in a two generation Chinese
family with enlarged vestibular aqueduct syndrome (EVAS). Methods Clinical and genetic …

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

Recessive mutations in SLC26A4 and in rarer cases double heterozygous mutations of
FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with …

Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …

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 …

Objectives To investigate the genetic cause of the patients with non-syndromic enlarged
vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations. Methods Presence of a …

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