Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients.

Anatomical record (Hoboken, N.J. : 2007) - 1 Mar 2020

Dong Yunpeng, He Xiangbo, Wu Weijing, Yang Shu, Peng Anquan, Xiao Zian, Liu Yuyuan, Gao Shuichao, Tan Donghui, Liu Xue Zhong, Xie Dinghua

Abstract excerpt

Deafness gene variants play a key role in inner ear malformations. However, the relationship between congenital middle ear malformations and common deafness genes (GJB2, SLC26A4, and mtDNA) in profound sensorineural hearing loss (SNHL) child patients remains poorly investigated. Here we showed that there was no statistical significance in the total mutation frequency of the three common deafness genes in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Abnormalities
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to DNA, Mitochondrial

Share to Ear, Middle

Share to Hearing Loss, Sensorineural

Share to Sulfate Transporters

Share to Temporal Bone

Source

Identifiers

PMID: 31876389
DOI: 10.1002/ar.24330

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients.PMID 31876389Read ↗

<b>A Comprehensive</b> <b>Review on Inherited Sensorineural Hearing Loss and Their Syndromes</b>Semantic proximity Read ↗

Syndromic Hearing Loss: A Brief Review of Common Presentations and GeneticsSemantic proximity Read ↗

Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing.Semantic proximity Read ↗

[Genotype and clinical phenotype analysis of 42 patients with delayed nonsyndromic hearing loss].Semantic proximity Read ↗

Genetic causes of moderate to severe hearing loss point to modifiers.Semantic proximity Read ↗

[Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children].Semantic proximity Read ↗

Genetic screening for hearing impairment and the genotype-phenotype correlation of GJB2 c.109G>A variants in 47,729 neonates: a population-based study in southern China.Semantic proximity Read ↗

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Semantic proximity Read ↗

Genetics of hearing impairment.Semantic proximity Read ↗

[Clinical hearing phenotypes analysis of GJB2 gene p.V37I homozygote and compound heterozygote mutation in infants].Semantic proximity Read ↗

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population.Semantic proximity Read ↗

Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.