Pendred syndrome (PS) is an autosomal recessive disease that is characterized by
congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In …

Pendrin is an anion exchanger whose mutations are known to cause hearing loss. However,
recent data support the linkage between pendrin expression and airway diseases, such as …

Pendrin, first identified in 1997, belongs to a superfamily of anion transporters localized in
the thyroid gland, inner ear and kidney. Immunohistochemical studies have shown that …

Thyroid hormones are essential for normal development, growth and differentiation of
numerous tissues, and metabolic regulation. Structurally, they are unique because they …

Pendred syndrome (OMIM 274600) is an autosomal, recessive disorder defined by the triad
of congenital deafness, goiter, and positive perchlorate test. After the cloning of the Pendred …

Pendrin mutations cause enlarged vestibular aqueducts and various degrees of
sensorineural hearing loss. The selective abolition of pendrin causes dilation of the …

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

Pendred's syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter, and impaired iodide organification. It is caused by mutations in the …

Background and aims: Mutations of SLC26A4 cause Pendred syndrome, an autosomal
recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts …

The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a
transporter of iodide and chloride. Mutations in this gene are responsible for Pendred …