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Article

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.

American journal of ophthalmology - 1 Oct 2003

Koenekoop Robert K, Loyer Magali, Hand Collette K, Al Mahdi Huda, Dembinska Olga, Beneish Raquel, Racine Julie, Rouleau Guy A

Abstract excerpt

PURPOSE: To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that different RPGR mutations result in distinct RP phenotypes. DESIGN: Observational case series. METHODS: Fifteen members in family I and three members in family II were evaluated. Full ophthalmic evaluations were done. Linkage analyses were performed and likelihood of odds scores (LOD score) were...

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Source

Identifiers

PMID: 14516808
DOI: 10.1016/s0002-9394(03)00331-3

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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