Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

Hearing loss can result from impairments in structures that support endocochlear potential,
as they play a crucial role in the transduction and transmission of auditory waves. This …

Nonsyndromic hearing loss is an extremely heterogeneous disorder. Thus, clinical
diagnostics is challenging, in particular due to differences in the etiology of hearing loss …

Background. Specific clinical conditions could compromise cochlear implantation outcomes
and drastically reduce the chance of an acceptable development of perceptual and linguistic …

Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by
sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic …

Objective Non‐syndromic sensorineural hearing impairment is inherited in an autosomal
recessive fashion in 75–85% of cases. To date, 61 genes with this type of inheritance have …

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 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 …

OBJECTIVE: Enlarged vestibular aqueduct is the most common inner ear malformation in
individuals with sensorineural hearing loss. Mutations in SLC26A4 can cause non …

Usher syndrome is a genetic condition involving Sensorineural hearing loss and Retinitis
pigmentosa (RP). Although considered a rare disease, it is the most frequent cause of deaf …