Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

Pendred syndrome (PDS) is characterized by recessive congenital/pre-lingual sensorineural
hearing impairment (HI), variable vestibular dysfunction, temporal bone abnormalities, and …

Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by
sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene …

Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …

Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …

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: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and
non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 …

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

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

It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …