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 …

There is a worldwide interest in studying SLC26A4 mutations that are responsible for
enlarged vestibular aqueduct (EVA) in different ethnic background and populations. The …

Although recessive mutations in the anion transporter gene SLC26A4 are known to be
responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with …

Transepithelial Cl− and HCO3− transport is critically important for the function of all epithelia
and, when altered or ablated, leads to a number of diseases, including cystic fibrosis …

This article is a review of the genes and genetic disorders that affect hearing in humans and
a few selected mouse models of deafness. Genetics is playing an increasingly critical role in …

Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …

Objective To correlate clinical and audiometric findings with the radiologic appearance in
patients with enlarged vestibular aqueduct. Design A retrospective review of data from …

Abstract Background Every year, 30,000 babies are born with congenital hearing
impairment in China. The molecular etiology of hearing impairment in the Chinese …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

BACKGROUND: No large population based studies of newborn hearing screening have
reported the population frequency of more than one specific form of deafness. OBJECTIVES …