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

[Hereditary hearing loss due to mutations in the connexin-26 gene].

Schweizerische medizinische Wochenschrift - 25 Jul 2000

Weigell-Weber M, Schinzel A, Hergersberg M

Abstract excerpt

Hearing loss is a frequent disease with an estimated incidence of 1:1000 in children. Hereditary hearing loss is characterised by enormous genetic heterogeneity, which makes diagnosis difficult. Approximately 50% of the Caucasian patients with autosomal recessive inherited hearing loss carry mutations in the connexin-26 gene on chromosome 13. Standard screening procedures such as SSCP (single strand conformation...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 26
Share to Connexins
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Polymorphism, Single-Stranded Conformational

Share to Sequence Deletion

Share to Switzerland

Share to White People

Source

Identifiers

PMID: 10971940

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Hereditary hearing loss due to mutations in the connexin-26 gene].PMID 10971940Read ↗

[Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].Semantic proximity Read ↗

[Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].Semantic proximity Read ↗

[Connexin26 and -30 in the Cochlea and their clinical relevance].Semantic proximity Read ↗

Connexin 26 mutations in nonsyndromic autosomal recessive hearing loss: speech and hearing rehabilitation.Semantic proximity Read ↗

[Practical medico-genetic counseling for congenital and early loss of hearing in children].Semantic proximity Read ↗

[From gene to disease: deafness and connexin 26].Semantic proximity Read ↗

[Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high-performance liquid chromatography].Semantic proximity Read ↗

Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene.Semantic proximity Read ↗

A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.Semantic proximity Read ↗

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon.Semantic proximity Read ↗

[Study of a mutation in connexin 26 gene associated with congenital sensorineural deafness].Semantic proximity Read ↗

[Genetic deafness:the primary cause of sensorineural hearing loss in children].Semantic proximity Read ↗

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