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Article

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2008

Walia Saloni, Fishman Gerald A, Swaroop Anand, Branham Kari E H, Lindeman Martin, Othman Mohammad, Weleber Richard G

Abstract excerpt

OBJECTIVE: To report discordant phenotypes, resulting from the same mutation in exon ORF15 (GenBank AF286472) of the retinitis pigmentosa GTPase regulator gene (RPGR) (GenBank U57629), in 2 presumed dizygotic twin brothers with X-linked retinal disease. METHODS: The 2 brothers underwent complete ophthalmic examination that included best-corrected visual acuity, slitlamp biomicroscopy, and detailed fundus...

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Source

Identifiers

PMID: 18332319
DOI: 10.1001/archophthalmol.2007.72

Genes

RPGR

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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Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.PMID 18332319Read ↗

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