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

[Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Li Jingjing, Kang Hongfei, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with congenital deafness pedigree in conjunct with enlarged vestibular aqueduct. METHODS: Whole-exome sequencing was carried out for the proband to analyze the genes associated with hereditary deafness. Candidate variant was verified by Sanger sequencing of the proband's parents and her younger brother. RESULTS: The proband was found to...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Forkhead Transcription Factors

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Pedigree

Share to Pregnancy

Share to Vestibular Aqueduct

Source

Identifiers

PMID: 36184087
DOI: 10.3760/cma.j.cn511374-20210722-00613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene].PMID 36184087Read ↗

[Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15].Semantic proximity Read ↗

A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.Semantic proximity Read ↗

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.Semantic proximity Read ↗

A novel missense mutation in the SLC26A4 gene in a chinese family with enlarged vestibular aqueductsSemantic proximity Read ↗

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct.Semantic proximity Read ↗

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.Semantic proximity Read ↗

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.Semantic proximity Read ↗

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.Semantic proximity Read ↗

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.Semantic proximity Read ↗

[Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene].Semantic proximity Read ↗

Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.Semantic proximity Read ↗

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.Semantic proximity Read ↗

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