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

Analysis of the Genetic Characteristics of a Chinese Family With Otosclerosis.

Ear, nose, & throat journal - 1 Sept 2021

Zhang Yongli, Tang Qi, Xue Ruoyan, Zhu Xiaohui, Yang Hua, Gao Zhiqiang

Abstract excerpt

BACKGROUND: Otosclerosis is a focal lesion of the inner ear. The role of genetic factors in the pathogenesis of otosclerosis has received increasing attention. We analyzed the clinical manifestations, inheritance pattern, and pathogenic genes in a family with otosclerosis. METHODS: We collected clinical data and generated a family pedigree. High-throughput second-generation sequencing technology was used to...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Conductive

Share to High-Throughput Nucleotide Sequencing

Share to Otosclerosis

Share to Pedigree

Share to Sp1 Transcription Factor

Source

Identifiers

PMID: 32126815
DOI: 10.1177/0145561320910627

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Analysis of the Genetic Characteristics of a Chinese Family With Otosclerosis.PMID 32126815Read ↗

Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.Semantic proximity Read ↗

[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].Semantic proximity Read ↗

Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.Semantic proximity Read ↗

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Semantic proximity Read ↗

Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.Semantic proximity Read ↗

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.Semantic proximity Read ↗

Clinical and genetic study of twelve Chinese Han families with non-syndromic deafnessSemantic proximity Read ↗

Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.Semantic proximity Read ↗

Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.Semantic proximity Read ↗

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.Semantic proximity Read ↗

Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.Semantic proximity Read ↗

Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families.Semantic proximity Read ↗

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