Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations
associated with non-syndromic childhood hearing impairment (HI) as well as the …

Importance Early identification and intervention for newborns with hearing loss (HL) may
lead to improved physiological and social-emotional outcomes. The current newborn …

Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of
inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4 …

Background Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong
genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment …

Rare diseases are diseases that occur at low prevalence, and most of them are chronic and
serious diseases that are often life-threatening. Currently, there is no unified definition for …

Hearing loss is one of the most important public health matters worldwide, severely affecting
people's social, psychological, and cognitive development. The perception of sound …

Background Gene variants are responsible for more than half of hearing loss, particularly in
nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 …

Purpose This study aimed to examine the frequencies of mt-tRNAGlu variants in 180
pediatric patients with non-syndromic hearing loss (NSHL) and 100 controls. Methods …

Background: The GJB2 gene is the most common deafness gene, and epidemic
characteristics have obvious racial specificity. Our study aimed to investigate the prevalence …

Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients
With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser …