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

Pendred syndrome, characterized by childhood deafness and postpuberty goiter, is caused
by mutations of SLC26A4, which codes for the anion exchanger pendrin. The goal of the …

Background: The anion exchanger pendrin (SLC26A4) is required for proper development
of the inner ear, and contributes to iodide organification in thyroid glands as well as anion …

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

Pendred syndrome is a recessive autosomal disorder characterized by thyroid goiter and
sensorineural hearing loss. The Pendred syndrome gene (SLC26A4) encodes a new anion …

Pendred Syndrome (PS) is an autossomal recessive disorder characterized by
sensorineural deafness, goiter and iodide organification defect. The hearing loss is …

The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin,
which is an anion exchanger expressed in apical membranes of selected epithelia. In the …

Ben Rebeh I, Yoshimi N, Hadj‐Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel
A, Ayadi H, Masmoudi S and Miyazaki H. Two missense mutations in SLC26A4 gene: a …

The SLC26A4 gene has been described as the second gene involved in most cases of
sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive …

Pendred syndrome (PS) is the most common cause of syndromic deafness, accounting for
more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral …