Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …

Abstract Pendrin (SLC26A4) is an anion exchanger from the SLC26 transporter family which
is mutated in human patients affected by Pendred syndrome, an autosomal recessive …

Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …

Pendred syndrome is a major cause of congenital deafness, goiter and defective iodide
organification. Mutations in the transmembrane protein, pendrin, cause diminished export of …

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

Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …

Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by
sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene …

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

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