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

Mutations of SLC26A4 are a common cause of human hearing loss associated with
enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger …

SLC26A4 mutations cause fluctuating and progressive hearing loss associated with
enlargement of the vestibular aqueduct (EVA). SLC26A4 encodes a transmembrane anion …

Mutations of SLC26A4 are among the most prevalent causes of hereditary deafness.
Deafness in the corresponding mouse model, Slc26a4−/−, results from an abnormally …

Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in
children with sensorineural hearing loss that is frequently associated with loss-of-function or …

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 …

The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin,
which is an anion exchanger expressed in apical membranes of selected epithelia. In the …

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 …

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

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