The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation
The most frequently observed congenital inner ear malformation is enlarged vestibular
aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea …
aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea …
[PDF][PDF] The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. Genes 2023, 14, 335
The most frequently observed congenital inner ear malformation is enlarged vestibular
aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea …
aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea …
The Phenotypic and Genomic Landscapes of 2,774 Chinese Patients with the Most Common Inner Ear Malformation: Optimization of Enlarged Vestibular Aqueduct …
S Huang, X Gao, Y Jiang, C Guo, G Wang, M Han… - papers.ssrn.com
Background: To comprehensively elucidate the phenotypic characteristics and genetic
spectra of the enlarged vestibular aqueduct. Methods: A cohort of 2,774 Chinese patients …
spectra of the enlarged vestibular aqueduct. Methods: A cohort of 2,774 Chinese patients …
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene
Y Tian, H Xu, D Liu, J Zhang, Z Yang… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of
inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4 …
inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4 …
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
P Chattaraj, T Munjal, K Honda, ND Rendtorff… - Journal of medical …, 2017 - jmg.bmj.com
Background Enlargement of the vestibular aqueduct (EVA) is the most common radiological
abnormality in children with sensorineural hearing loss. Mutations in coding regions and …
abnormality in children with sensorineural hearing loss. Mutations in coding regions and …
Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular …
Y Yuan, W Guo, J Tang, G Zhang, G Wang, M Han… - PloS one, 2012 - journals.plos.org
Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review
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 …
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …
Difference of SLC26A4 gene mutation frequency between patients with large vestibular aqueduct syndrome and/or Mondini dysplasia
Y Liu, Z Huang, C Sun, X Shen, W Li… - Lin Chuang er bi yan hou …, 2021 - europepmc.org
Objective: The purpose of this study was to evaluate the mutation frequency of SLC26A4
gene in patients with enlarged vestibular aqueduct syndrome (EVAS) and/or Mondini …
gene in patients with enlarged vestibular aqueduct syndrome (EVAS) and/or Mondini …
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
LA Klarov, VG Pshennikova, GP Romanov… - International Journal of …, 2022 - mdpi.com
Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with
hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study …
hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study …
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts
X He, S Zhao, L Shi, Y Lu, Y Yang, X Zhang - BMC Medical Genomics, 2022 - Springer
Background To investigate the genetic causes of hearing loss in patients with enlarged
vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed …
vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed …