The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …

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

SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss
(DFNB4). The mouse model is well used to study the pathology of Pendred syndrome …

Mutations in SLC26A4 cause Pendred syndrome, an autosomal‐recessive disorder
characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal …

The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the
homeostasis of the ion concentration of the endolymph of the inner ear, most likely by acting …

Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

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: 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 …

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