Objectives/Hypothesis To compare changes in hearing in patients with SLC26A4 during
early and late childhood. Study Design Retrospective chart review. Methods A total of 102 …

Hearing loss (HL) is genetically heterogeneous and can be caused by mutations in multiple
gene lesions. Pendred syndrome, caused by mutation of SLC26A4, is one of the common …

This paper presents the current views, regarding the pathomechanisms, which lead to the
development of pathological symptoms in the enlargement of the vestibular aqueduct …

OBJECTIVES: We report a clinical and genetic study of three consanguineous Tunisian
families affected by Pendred syndrome. PATIENTS AND METHODS: Three families from the …

Abstract Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with
goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as …

Background Pendred syndrome, a common autosomal-recessive disorder characterized by
congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for …

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

Objective: To evaluate vestibular and long-term audiometric findings in patients with
Pendred syndrome. Study design: Retrospective analysis of long-term clinical data. Setting …

Background and aims: Mutations of SLC26A4 cause Pendred syndrome, an autosomal
recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts …