Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder
Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in …

Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …

Pendred syndrome is an autosomal recessive disorder characterized by the association
between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the …

Immunolocalization studies of mouse cochlea and vestibular end-organ were performed to
study the expression pattern of pendrin, the protein encoded by the Pendred syndrome gene …

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 …

Mice that lack the winged helix/forkhead gene Foxi1 (also known as Fkh10) are deaf and
display shaker/waltzer behavior, an indication of disturbed balance. While Foxi1 is …

Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and
positive perchlorate discharge test. Recently, this autosomal recessive disorder was shown …

Although the textbook view of Pendred syndrome is that of an autosomal recessive condition
characterized by deafness and goitre, it is increasingly clear that not all such patients …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

Long-term hearing threshold-on-age follow-up data, including non-linear regression
analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's …