… fluctuating hearing loss may constitute a sign of a NSEVA/PDS … mutations in determining
the phenotype of isolated EVA/PDS, … features of non-syndromic enlarged vestibular aqueduct (…

… EVA may be associated to other cochleovestibular … as well as non-syndromic forms of
hearing loss. Genes that have been … of mutations in this gene cause non-syndromic autosomal …

… non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese
patient with non-syndromic enlarged vestibular aqueduct (… 2019 due to “hearing loss for 2 …

… hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities
(bilateral enlarged vestibular aqueduct … vestibular aqueduct (PDS/NSEVA) caused by biallelic …

… is associated with Pendred syndrome [7] autosomal recessive non-syndromic hearing loss
(DFNB4) [8], caused by … As hearing loss caused by SLC26A4 mutation is usually progressive, …

… SLC26A4 is the second most frequently mutated gene in arHL. … Defects in SLC26A4 are
among the most frequent causes (… either syndromic or non-syndromic SLC26A4-associated HL, …

… Mutations in the SLC26A4 gene can cause syndromic (Pendred syndrome) or non-syndromic
hearing loss, both associated with inner ear … However, the mutation spectrum on the …

… ear. These results suggest that some CHD7 variants can cause nonsyndromic hearing loss
… Chd7 expression and mutant phenotype data in mice suggest that CHD7 contributes to the …

… Its homozygous mutation or compound heterozygous mutation may cause … non-syndromic
hearing loss, and a small number of patients with goiter are called Pendred syndrome (PDS)[3]…

… mutations in patients with enlarged vestibular aqueduct in … Hearing loss associated with
enlarged vestibular aqueduct … for non-syndromic deafness with enlarged vestibular aqueducts. …