The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the
ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-). Mutations in the SLC26A4 …

Background: Malfunction of the SLC26A4 protein leads to prelingual deafness often
associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a …

Objective To investigate the mutations in the SLC26A4 gene in a Chinese patient with
Pendred syndrome. Methods The diagnosis of Pendred syndrome was confirmed by the …

OBJECTIVE: Pendred syndrome is one of the most common hereditary determined diseases
in patients with syndromic sensorineural hearing impairment. Mutations in the SLC26A4 …

Objectives: Pendred syndrome, an autosomal recessive disorder, is often associated with
pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its …

Malfunction of the SLC26A4 protein leads to Pendred syndrome, characterized by
sensorineural hearing loss, often associated with mild thyroid dysfunction and goiter. It is …

While once considered rare, the importance of bronchiectasis has been increasingly
appreciated (1), and is now recognised in all settings globally (2–4). Currently, the …

Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as
a manifestation of Pendred syndrome (PS) with an iodide organification defect or …

Background: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and
non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 …

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