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

Hair phenotype in non-syndromic deafness.

International journal of pediatric otorhinolaryngology - 1 Aug 2013

Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A

Abstract excerpt

The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been demonstrated that connexins are involved in regulation of growth and differentiation of epidermal tissues. Hence,...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Connexin 26
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Infant

Share to Microscopy, Electron, Scanning

Share to Young Adult

Source

Identifiers

PMID: 23751281
DOI: 10.1016/j.ijporl.2013.05.010

Genes

GJB2

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 · 9 closest

Hair phenotype in non-syndromic deafness.PMID 23751281Read ↗

Connexin mutations in hearing loss, dermatological and neurological disorders.Semantic proximity Read ↗

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.Semantic proximity Read ↗

Ultrastructure of the hair in genetic prelingual deafness associated with the 35delG mutation in the connexin 26 gene (GJB2).Semantic proximity Read ↗

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?Semantic proximity Read ↗

Connexin mutations in skin disease and hearing loss.Semantic proximity Read ↗

Further delineation of the hypotrichosis-deafness syndrome.Semantic proximity Read ↗

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.Semantic proximity Read ↗

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.Semantic proximity Read ↗

Detection of epidermal thickening in GJB2 carriers with epidermal US.Semantic proximity Read ↗

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