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Article

Phenotype in two families with RP3 associated with RPGR mutations.

Ophthalmic genetics - 1 Jun 2003

Lorenz Birgit, Andrassi Monika, Kretschmann Ulf

Abstract excerpt

OBJECTIVE: To describe the phenotype of three patients and two carriers from two families with mutations in the RPGR gene. The genotypes (a 75-kb deletion on the X chromosome spanning the RPGR gene and the first exon of the SRPX gene, and a stop mutation (G52X) in the RPGR gene) have been reported previously. METHODS: A clinical examination including Goldmann perimetry, full-field electroretinography (ERG), dark...

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Source

Identifiers

PMID: 12789573
DOI: 10.1076/opge.24.2.89.14001

Genes

RPGR
ERG

Variants

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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