Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by
sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic …

Objective: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are
reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify …

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

Pendred syndrome is an autosomal recessive disorder characterised by sensorineural
hearing loss and thyroid dyshormonogenesis. It is caused by mutations in the …

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 (PS) is the most common cause of syndromic deafness, accounting for
more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral …

Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can
occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to …

Objectives: Pendred syndrome is an autosomal recessive disorder characterized by the
combination of sensorineural deafness and goiter and is caused by biallelic mutations in the …

Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome
(PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and …

Pendred Syndrome (PS) is an autossomal recessive disorder characterized by
sensorineural deafness, goiter and iodide organification defect. The hearing loss is …