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

doi:10.1038/ng1093-180

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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...

Topics

Adolescent
Base Sequence
Child
DNA, Complementary
Eye Diseases
Eye Proteins
Female
Genetic Linkage
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Pedigree

Retina

Retinal Diseases

Vitreous Body

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 8252044
DOI: 10.1038/ng1093-180

Genes

NDP
MAOA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8252044-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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

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