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

Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in
children with sensorineural hearing loss that is frequently associated with loss-of-function or …

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 …

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, first described in 1896, is phenotypically characterized as the
coexistence of sensorineural deafness and enlarged goiter with elevated iodine discharge …

OBJECTIVE Pendred's syndrome is an autosomal recessive disorder characterized by
goitre, sensorineural deafness and iodide organification defect. It is one of the most frequent …

Pendred syndrome (PDS) is characterized by recessive congenital/pre-lingual sensorineural
hearing impairment (HI), variable vestibular dysfunction, temporal bone abnormalities, and …

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

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 …