Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and
autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar …

Pendred syndrome (PDS; OMIM# 274600) is an autosomal recessive disorder characterized
by bilateral sensorineural hearing loss with inner ear malformations and goiter, although the …

Objective Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal
recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 …

Objectives The aim of this study was to detect the genetic cause of deafness in a large
Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about …

Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …

Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic
origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene …

Mutations of the human SLC26A4/PDS gene constitute the most common cause of
syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum …

Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by
sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene …

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 …

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