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

The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

The American journal of otology - 1 Mar 2000

Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C

Abstract excerpt

OBJECTIVE: To study nonsyndromic progressive sensorineural hearing impairment in patients with a COL11A2 mutation (DFNA13) in a Dutch kindred. STUDY DESIGN: Survey. SETTING: Department of otorhinolaryngology of a university hospital. PATIENTS: Twenty-one living members of a Dutch family (150 relatives in 5 generations; 49 were studied) with autosomal dominant nonsyndromic sensorineural hearing impairment showed...

Read the complete abstract on PubMed

Topics

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

Share to Auditory Threshold
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 6

Share to Genes, Dominant

Share to Hearing Loss, Sensorineural

Share to Penetrance

Share to Point Mutation

Source

Identifiers

PMID: 10733181
DOI: 10.1016/s0196-0709(00)80006-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.PMID 10733181Read ↗

Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).Semantic proximity Read ↗

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.Semantic proximity Read ↗

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.Semantic proximity Read ↗

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Semantic proximity Read ↗

Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation.Semantic proximity Read ↗

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].Semantic proximity Read ↗

Phenotypic characterization of hereditary hearing impairment linked to DFNA25.Semantic proximity Read ↗

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.Semantic proximity Read ↗

Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.Semantic proximity Read ↗

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.Semantic proximity Read ↗

Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).Semantic proximity Read ↗

DPOAEs and vestibular function in different types of autosomal-dominant non-syndromal hearing impairment.Semantic proximity Read ↗

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