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Article

Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jul 2011

Khan Arif O, Shinwari Jameela, Al-Sharif Latifa, Khalil Dania S, Al Tassan Nada

Abstract excerpt

OBJECTIVE: To determine the genotype underlying suspected X-linked infantile nystagmus in a family and to correlate genotype with clinical examination in potential female carriers. METHODS: Ophthalmic examination (ophthalmic, orthoptic, optokinetic [OKN] drum, and electrophysiologic when possible) and candidate gene analysis. RESULTS: Two affected brothers had infantile nystagmus with no evidence of associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21746984
DOI: 10.1001/archophthalmol.2011.166

Genes

FRMD7
TUBB3

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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