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Article

Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype?

International journal of pediatric otorhinolaryngology - 1 Dec 2006

Schrijver Iris, Chang Kay W

Abstract excerpt

We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V37I mutations in the GJB2 gene. One patient has a unilaterally enlarged vestibular aqueduct, which underscores the importance of routine CT examination in children with SNHL, even if GJB2 (connexin 26) mutations have been identified. The second patient was not available for evaluation by CT....

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Source

Identifiers

PMID: 16952406
DOI: 10.1016/j.ijporl.2006.07.015

Genes

GJB2

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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Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype?PMID 16952406Read ↗

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