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Article

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Nature genetics - 1 Oct 1993

Chen Z Y, Battinelli E M, Fielder A, Bundey S, Sims K, Breakefield X O, Craig I W

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome...

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Source

Identifiers

PMID: 8252044
DOI: 10.1038/ng1093-180

Genes

NDP
MAOA

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.

Related research

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A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.PMID 8252044Read ↗

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.Semantic proximity Read ↗

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.Semantic proximity Read ↗

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.Semantic proximity Read ↗

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.Semantic proximity Read ↗

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.Semantic proximity Read ↗

Mutations in the <i>NDP</i> gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematuritySemantic proximity Read ↗

Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.Semantic proximity Read ↗

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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