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Article

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Human mutation - 1 May 2007

Schorderet Daniel F, Tiab Leila, Gaillard Marie-Claire, Lorenz Birgit, Klainguti Georges, Kerrison John B, Traboulsi Elias I, Munier Francis L

Abstract excerpt

Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a number of ocular or neurological diseases, or it can be inherited in an autosomal or X-linked fashion. The latter form is called idiopathic or motor nystagmus (CIN). Loci on the X chromosome (NYS1) and on 6p12 (NYS2), 7p11.2 (NYS3), and 13q31-q33 (NYS4) have been identified for CIN. The...

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Source

Identifiers

PMID: 17397053
DOI: 10.1002/humu.9492

Genes

FRMD7

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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Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.PMID 17397053Read ↗

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Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.Semantic proximity Read ↗

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