Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …

Inner ear malformations are present in 20% of patients with sensorineural hearing loss.
Although the first descriptions date to the 18th century, in recent years the knowledge about …

Melatonin is a pleiotropic biofactor and an effective antioxidant and free radical scavenger
and, as such, can be protective in oxidative stress‐related brain conditions including …

Objective Enlargement of the vestibular aqueduct (EVA) is one of the most common
congenital malformations in pediatric patients presenting with sensorineural or mixed …

X-linked deafness (DFNX) is estimated to account for up to 2% of cases of hereditary
hearing loss and occurs in both syndromic and non-syndromic forms. POU3F4 is the gene …

The cause of childhood hearing impairment (excluding infectious pathology of the middle
ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma …

Incomplete partition type II (IP-II) is frequently identified in ears with SLC26A4 mutations.
Cochleae with IP-II are generally observed to have 1½ turns; the basal turns are normally …

Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in
HL may further increase when gene therapy products become available. Diagnoses are …

The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations
in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to …