Pendred syndrome (PS) is an autosomal recessive disease that is characterized by
congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In …

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

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

Objectives The genetics of sensorineural hearing loss is characterized by a high degree of
heterogeneity. In spite of this, mutations in the SLC26A4 gene, have been reported to be the …

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of
hereditary hearing impairment (HHI). To date, 16 different loci have been reported, making …

Pendred syndrome is an autosomal recessive disorder characterized by goiter and
congenital deafness. The primary defect is not yet known, although the gene causing …

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural
hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene …

This article provides information about Pendred syndrome (PS) which was initially described
as deafness and goiter. It has been reported as a common form of syndromic hearing loss …

Hearing impairment is one of the commonest clinical conditions. It has been estimated that
approximately 1 in 10 persons has hearing concerns. Further epidemiological studies have …

Background Pendred syndrome (PS) and nonsyndromic hearing loss associated with
enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa …