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Article

Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness.

International journal of pediatric otorhinolaryngology - 1 Apr 2012

Petersen Michael B, Grigoriadou Maria, Economides John, Kokotas Haris

Abstract excerpt

OBJECTIVES: Connexins (Cxs) are membrane-spanning proteins that co-assemble into intercellular gap junction channels. Gap junction channels mediate electrical and biochemical communication between adjacent cells and play vital roles as mediators of intercellular molecular signaling. Cx-linked deafness highlights the key role of gap junctions in the physiological processes of hearing. Co-localization of Cxs with...

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Source

Identifiers

PMID: 22321824
DOI: 10.1016/j.ijporl.2012.01.014

Genes

GJB2

Variants

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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.

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