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Article

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.

The British journal of ophthalmology - 1 Aug 1999

Klevering B J, van Driel M, van de Pol D J, Pinckers A J, Cremers F P, Hoyng C B

Abstract excerpt

AIMS: To describe two phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family in a pseudodominant pattern, resulting from mutations in the ATP binding cassette transporter (ABCR) gene. METHODS: Patients of this family underwent an extensive ophthalmic e...

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Identifiers

PMID: 10413692
DOI: 10.1136/bjo.83.8.914
PMCID: PMC1723135

Genes

ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10413692-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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