Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …

Abstract SLC26A4/PDS mutations cause Pendred Syndrome and non-syndromic deafness.
but some aspects of function and regulation of the SLC26A4 polypeptide gene product …

The disease gene for Pendred syndrome has been recently characterized and named PDS.
It codes for a transmembrane protein called pendrin, which is highly expressed at the apical …

Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can
occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to …

Pendred syndrome is a recessively inherited disorder with the hallmark features of
congenital deafness and thyroid goitre. By some estimates, the disorder may account for …

Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness,
goiter and a partial organification defect of iodide. It is caused by biallelic mutations in the …

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 …

Although recessive mutations in the anion transporter gene SLC26A4 are known to be
responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with …

Pendred's syndrome (PS) is an autosomal recessive disorder characterized by deafness
and goiter, which are caused by mutations in the Pendred's syndrome gene (PDS). PDS …

Background Pendred syndrome, a common autosomal-recessive disorder characterized by
congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for …