Background: We report here the genetic characterisation of a large five generation Chinese
family with the phenotypic features of auditory neuropathy and progressive peripheral …

Objective (s) To describe cochlear implantation (CI) outcomes, with speech perception,
auditory, language, and parent‐reported auditory and speech behaviors, in children with an …

Recessive variants in GJB2 are the most important genetic cause of sensorineural hearing
impairment (SNHI) worldwide. Phenotypes vary significantly in GJB2-related SNHI, even in …

Objective To correlate genetic and audiometric findings with a detailed radiologic analysis of
the temporal bone in patients with enlarged vestibular aqueduct (EVA) to ascertain the …

Objective: To describe the long‐term audiologic findings in pediatric patients with enlarged
vestibular aqueducts (EVAs). The relationship between the hearing loss (HL) and the …

Mutations of the human SLC26A4/PDS gene constitute the most common cause of
syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum …

Hearing loss (HL) is a common genetically heterogeneous sensory disorder, occurring in 1
to 3 per 1000 live births. In spite of the extraordinary genetic heterogeneity, variants in GJB2 …

Although etiological studies have shown genetic disorders to be a common cause of
congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter …

The genetic heterogeneity of congenital hearing disorders makes molecular diagnosis
expensive and time‐consuming using conventional techniques such as Sanger sequencing …

Hearing loss is the most common congenital sensory impairment, affecting 1 in 500
newborns and 1 in 300 children by the age of 4. 1 Approximately 1 in 1000 newborns has …