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

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

Pendrin is an anion transporter encoded by the PDS/Pds gene. In humans, mutations in
PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and …

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

Recently the gene responsible for Pendred syndrome (PDS) was isolated and several
mutations in the PDS gene have been identified in Pendred patients. Here we report the …

Patients with PS or non-syndromic deafness were submitted to genetic/functional analyzes
of SLC26A4, of its binding domain for FOXI1 (FOXI1-DBD), of the transcription activator …

Pendred's syndrome is a combination of congenital sensorineural hearing loss and iodine
organification defect leading to a positive perchlorate test and goiter. Although it is the …

Pendred syndrome, characterized by congenital sensorineural hearing loss and goiter, is
one of the most common forms of syndromic deafness. The gene causing Pendred …

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