The SLC26A4 gene has been described as the second gene involved in most cases of
sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive …

Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The
clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity …

Pendred's syndrome, an autosomal-recessive condition characterized by congenital
sensorineural hearing loss and goiter, is caused by mutations in the PDS gene. Located on …

Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic
variations of the same entity due to mutations in the SLC26A4 (pendrin) gene. Pendred …

Pendred syndrome is an autosomal recessive disorder characterized by the association
between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the …

Background: Pendred syndrome (PS), a recessive disorder caused by mutations in the
SLC26A4 (PDS) gene, is associated with deafness and goiter. SLC26A4 mutations have …

Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and
deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger …

Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and
positive perchlorate discharge test. Recently, this autosomal recessive disorder was shown …

The expression and function of the anion exchanger pendrin (SLC26A4) was thought to be
limited mainly to the inner ear, kidney and thyroid. Recent data indicates that pendrin is also …

Abstract Background The autosomal recessive Pendred's syndrome is defined by congenital
sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations …