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Article

[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary].

Orvosi hetilap - 6 Oct 2002

Tóth Tímea, Kupka Susan, Blin Nicolaus, Pfister Markus, Sziklai István

Abstract excerpt

INTRODUCTION: Hereditary hearing impairment is a heterogeneous disorder showing different pattern of inheritance and involving a multitude of different genes. Mutations in the GJB2 gene, especially the 35delG mutation, have been established as a major cause of inherited and sporadic non-syndromic...

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Source

Identifiers

PMID: 12420583

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12420583-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary].PMID 12420583Read ↗

[Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene].Semantic proximity Read ↗

Frequency of the recessive 30delG mutation in the GJB2 gene in Northeast-Hungarian individuals and patients with hearing impairment.Semantic proximity Read ↗

GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.Semantic proximity Read ↗

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.Semantic proximity Read ↗

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.Semantic proximity Read ↗

Unusual phenotype in 35delG mutation: a case report.Semantic proximity Read ↗

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

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].Semantic proximity Read ↗

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.Semantic proximity Read ↗

[Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening].Semantic proximity Read ↗

Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.Semantic proximity Read ↗

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.Semantic proximity Read ↗

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