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Article

[Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening].

Laryngo- rhino- otologie - 1 Apr 2014

Prera N, Löhle E, Birkenhäger R

Abstract excerpt

OBJECTIVE: Hearing impairment is the most common sensorineural disease in humans. About 1-3 per 1 000 neonates suffers at birth or in the first years from high-grade to severe hearing impairment. About half of the cases are due to genetic alterations. Most commonly, the GJB2 gene (connexin-26) is concerned with the mutation c.35delG. MATERIAL AND METHODES: All patients showed a severe to profound hearing...

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Topics

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Share to Cochlear Implantation
Share to Connexin 26
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Delayed Diagnosis

Share to Hearing Loss, Sensorineural

Share to Neonatal Screening

Share to Otoacoustic Emissions, Spontaneous

Source

Identifiers

PMID: 24022696
DOI: 10.1055/s-0033-1355343

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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[Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening].PMID 24022696Read ↗

[Genetic aspects of congenital sensorineural hearing loss].Semantic proximity Read ↗

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

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

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.Semantic proximity Read ↗

Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Semantic proximity Read ↗

Molecular analysis in diagnostic procedure of hearing impairment in newborns.Semantic proximity Read ↗

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Genetics of congenital hearing impairment: a clinical approach.Semantic proximity Read ↗

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Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment.Semantic proximity Read ↗

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