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Article

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 May 1997

Shastry B S, Pendergast S D, Hartzer M K, Liu X, Trese M T

Abstract excerpt

BACKGROUND: Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5). X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been associated with mutations in the Norrie disease (ND) gene in some cases. OBJECTIVE: To determine if similar mutations in...

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Identifiers

PMID: 9152134
DOI: 10.1001/archopht.1997.01100150653015

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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.

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Research trail→

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Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.PMID 9152134Read ↗

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

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

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

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.Semantic proximity Read ↗

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

A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.Semantic proximity Read ↗

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

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Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.Semantic proximity Read ↗

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.Semantic proximity Read ↗

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