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

Abstract Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner
ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic …

Hearing loss is a well-known clinical sign in the context of pendrin malfunction. Pendred
syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct …

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 …

SLC26A4 encodes pendrin, a transporter exchanging anions such as chloride, bicarbonate,
and iodide. Loss of function mutations of SLC26A4 cause Pendred syndrome characterized …

Pendred's syndrome (PS) is an autosomal recessive disorder characterized by deafness
and goiter, which are caused by mutations in the Pendred's syndrome gene (PDS). PDS …

Pendred syndrome (OMIM 274600) is an autosomal, recessive disorder defined by the triad
of congenital deafness, goiter, and positive perchlorate test. After the cloning of the Pendred …

Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing impairment, presence of goiter, and a partial defect in iodide organification, which …

Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …