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Article

Phenotype variations within a choroideremia family lacking the entire CHM gene.

Ophthalmic genetics - 1 Dec 1995

Ponjavic V, Abrahamson M, Andréasson S, Van Bokhoven H, Cremers F P, Ehinger B, Fex G

Abstract excerpt

A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electroretinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the...

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Source

Identifiers

PMID: 8749050
DOI: 10.3109/13816819509057855

Genes

CHM
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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