Pendred's syndrome is an autosomal recessive disease characterized by goiter and
congenital sensorineural deafness. Most patients with Pendred's syndrome are euthyroid …

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

Background: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are
responsible for Pendred syndrome, characterized by congenital sensorineural deafness and …

Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and
deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger …

Pendred syndrome is an autosomal recessive disorder traditionally defined by sensorineural
deafness, goiter, and a partial defect in the organification of iodide (OMIM 274600; …

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 …

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

Introduction Pendred syndrome, a combination of sensorineural deafness, impaired
organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin …

Pendrin is a membrane transporter encoded by solute carrier family26A4 (SLC26A4).
Mutations in this gene are known to cause hearing loss, and recent data from animal studies …