Objectives To identify mutations in theSLC26A4gene in individuals with nonsyndromic
hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin …

Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …

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 …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

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 …

Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …

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 …

Objectives To investigate the genetic causes of hearing loss with enlarged vestibular
aqueduct (EVA) in two children from unrelated two Chinese families. Methods Sanger …

Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic
enlargement of the vestibular aqueduct, two conditions associated with sensorineural …

It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …