Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …

Background: Pendrin is a multifunctional anion transporter that exchanges chloride and
iodide in the thyroid, as well as chloride and bicarbonate in the inner ear, kidney and …

Abstract Background The 2015 American College of Medical Genetics and Genomics
(ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …

Calcium oxalate stone formation occurs under pathological conditions and accounts for
more than 80% of all types of kidney stones. In the current study, we show for the first time …

Context: Pendred syndrome is caused by mutations in the gene coding for pendrin, an
apical Cl−/I− exchanger. Objective: To analyze intrathyroidal compensatory mechanisms …

The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes
for the anion exchanger pendrin, are population-specific and account for at least 50% of …

Aims: To describe the phenotype of a large group of children with congenital hypothyroidism
(CH) and iodide organification defect (IOD), suspected based on normal thyroid position and …

Abstract Background/Aims: Pendrin is a Cl-/I-/HCO3-exchanger playing a fundamental role
in controlling blood pressure and airway function, therefore representing an attractive target …