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

doi:10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2

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Article

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

Human mutation - 1 Jan 1997

Shastry B S, Hejtmancik J F, Trese M T

Abstract excerpt

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and...

Topics

Blindness
Deafness
Exudates and Transudates
Female
Genetic Linkage
Humans
Intellectual Disability
Male
Mutation
Pedigree
Retinal Diseases
Vitreous Body
X Chromosome

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