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

Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation.

The journal of international advanced otology - 1 Jan 2021

Ciorba Andrea, Corazzi Virginia, Melegatti Michela, Morgan Anna, Pelliccione Giulia, Girotto Giorgia, Bigoni Stefania

Abstract excerpt

This paper aims to present a third world case of Non-Syndromic sensorineural hearing loss (NSHL) due to a novel missense variant in COL11A1 gene, defined as DFNA37 non-syndromic hearing loss. The clinical features of a 6-year-old boy affected by a bilateral moderate to severe down-sloping sensorineural hearing loss are presented, as well as the genetic analysis, the latter identifying a heterozygous missense...

Read the complete abstract on PubMed

Topics

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

Share to Cesarean Section
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type XI

Share to Hearing Loss

Share to Mutation

Share to Pregnancy

Source

Open in PubMed Open full text

Identifiers

PMID: 33605226
DOI: 10.5152/iao.2020.8179
PMCID: PMC7901426

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

Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation.PMID 33605226Read ↗

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusSemantic proximity Read ↗

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.Semantic proximity Read ↗

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

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.Semantic proximity Read ↗

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

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

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

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.Semantic proximity Read ↗

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

[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].Semantic proximity Read ↗

Sensorineural hearing impairment: non-syndromic, recessive DFNB2.Semantic proximity Read ↗

Non-syndromic autosomal dominant sensorineural hearing loss: a new field of research.Semantic proximity Read ↗

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