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Article

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.

Journal of basic and clinical physiology and pharmacology - 1 Sept 2014

Sokolov Meirav, Brownstein Zippora, Frydman Moshe, Avraham Karen B

Abstract excerpt

BACKGROUND: Connexin 26 (GJB2) mutations are associated with various types of hearing loss, either without associated symptoms or with skin disease, constituting a form of syndromic hearing loss. These mutations can lead to deafness in either a recessive or a dominant autosomal form of inheritance. METHODS: Ascertainment of a Jewish Ashkenazi family with nonsyndromic hearing loss led to the construction of a...

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Source

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Identifiers

PMID: 25153233
DOI: 10.1515/jbcpp-2014-0053
PMCID: PMC5916754

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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