Pendred syndrome is the most common form of syndromic deafness and characterized by
congenital sensorineural hearing loss and goitre 1, 2, 3. This disorder was mapped to …

Pendred syndrome is an autosomal recessive disorder characterized by the association
between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the …

Pendred syndrome is an autosomal recessive disorder characterized by early childhood
deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the …

Background Pendred syndrome is often associated with inner ear malformations, especially
enlarged vestibular aqueduct (EVA). Recently, mutations in the Pendred syndrome gene …

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

Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …

Recent advances in human genetics have catalyzed the attention on Pendred's syndrome
and its disease-gene, PDS. Studies on the expression of the PDS gene and on the function …

Pendred syndrome is an autosomal‐recessive disorder characterized by congenital
sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of …

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

Pendred's syndrome, an autosomal-recessive condition characterized by congenital
sensorineural hearing loss and goiter, is caused by mutations in the PDS gene. Located on …