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Article

X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.

Molecular vision - 29 Nov 2007

Shiels Alan, Bennett Thomas M, Prince Jessica B, Tychsen Lawrence

Abstract excerpt

PURPOSE: Infantile nystagmus is a clinically and genetically heterogeneous eye movement disorder. Here we map and identify the genetic mutation underlying X-linked idiopathic infantile nystagmus (XL-IIN) segregating in two Caucasian-American families. METHODS: Eye movements were recorded using binocular infrared digital video-oculography. Genomic DNA was prepared from blood or buccal-cells, and linkage analysis...

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Share to Amino Acid Substitution
Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

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Share to Membrane Proteins

Share to Mutation, Missense

Share to Nystagmus, Congenital

Source

Identifiers

PMID: 18087240

Genes

FRMD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.PMID 18087240Read ↗

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