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

doi:10.1006/bbrc.1998.8565

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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 fibr...

Topics

Base Sequence
Blindness
Child, Preschool
DNA
Deafness
Diseases in Twins
Eye Diseases, Hereditary
Eye Proteins
Female
Genetic Linkage
Heterozygote
Humans
Infant
Intermediate Filament Proteins
Male
Membrane Glycoproteins
Nerve Tissue Proteins
Pedigree

Source

Open in PubMed

Identifiers

PMID: 9618247
DOI: 10.1006/bbrc.1998.8565

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9618247-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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