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 …

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 …

Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome
and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear …

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

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

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

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

Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant
phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study. Study …

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

Abstract Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two
autosomal recessive disorders that share hearing loss as a common feature. The hearing …