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Article

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

Biochemical and biophysical research communications - 8 May 1998

Shastry B S

Abstract excerpt

Disorders such as Norrie disease, X-linked familial exudative vitreoretinopathy, retinopathy of prematurity and X-linked primary vitreoretinal dysplasia have very similar clinical manifestations. They exhibit retinal fold, retinal detachment, retinal traction and the formation of retrolental fibrovascular membrane. In order to identify carriers for these disorders and provide precise genetic counseling of the...

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Identifiers

PMID: 9618247
DOI: 10.1006/bbrc.1998.8565

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.PMID 9618247Read ↗

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 ↗

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

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

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

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

A mutation in the Norrie disease gene (NDP) associated with 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 ↗

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 ↗

Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.Semantic proximity Read ↗

Familial Exudative VitreoretinopathySemantic proximity Read ↗

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

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