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

Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.

Cold Spring Harbor molecular case studies - 1 Aug 2021

Medina Genevieve, Perry Julia, Oza Andrea, Kenna Margaret

Abstract excerpt

Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with these symptoms are often assumed to have USH. This can be an erroneous assumption, as there are additional genetic causes of deaf-blindness. Our objective is to describe and accurately diagnose non-USH...

Read the complete abstract on PubMed

Topics

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

Share to Blindness
Share to Cell Cycle Proteins
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Testing

Share to Hearing Loss

Share to Tubulin

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 34021019
DOI: 10.1101/mcs.a006088
PMCID: PMC8327880

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

Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.PMID 34021019Read ↗

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Semantic proximity Read ↗

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.Semantic proximity Read ↗

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.Semantic proximity Read ↗

Current updates on genetic spectrum of usher syndromeSemantic proximity Read ↗

Review of Genotype-Phenotype Correlations in Usher Syndrome.Semantic proximity Read ↗

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.Semantic proximity Read ↗

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic TargetsSemantic proximity Read ↗

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.Semantic proximity Read ↗

Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.Semantic proximity Read ↗

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

[Hearing loss due to mutations in the genes responsible for Usher syndrome].Semantic proximity Read ↗

Usher syndrome: hearing loss with vision loss.Semantic proximity Read ↗

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