Pendred's syndrome is an autosomal recessive disease characterized by goiter, impaired
iodide organification, and congenital sensorineural deafness. The gene mutated in …

We performed an electrophysiological study to investigate ion transport of pendrin and
thereby understand the pathogenesis of Pendred syndrome. Using pendrin-transfected COS …

Background Pendred syndrome, an autosomal-recessive disorder characterized by
deafness and goiter, is caused by a mutation of SLC26A4, which codes for the anion …

Loss-of-function mutations of SLC26A4/pendrin are among the most prevalent causes of
deafness. Deafness and vestibular dysfunction in the corresponding mouse model …

This article provides information about Pendred syndrome (PS) which was initially described
as deafness and goiter. It has been reported as a common form of syndromic hearing loss …

Objective: The autosomal recessive Pendred's syndrome is defined by congenital
sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations …

The distribution of pendrin, which is encoded by the Pendred syndrome gene, has been
investigated immunohistochemically in the inner ear. In the cochlea, pendrin has been found …

Pendred syndrome is a recessive inherited disorder that consists of developmental
abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement …

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

Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the
cause is a heterogeneous genetic abnormality and is caused by the changes that occur in …