X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis
about
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.A fetus with an X;1 balanced reciprocal translocation and eye disease.Familial exudative vitreoretinopathyThe molecular biology of Norrie's disease.A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.Familial exudative vitreoretinopathy and related retinopathies.Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigreeReduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease.Manifesting heterozygosity in Norrie's disease?Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
P2860
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P2860
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 1993
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis
@en
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.
@nl
type
label
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis
@en
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.
@nl
prefLabel
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis
@en
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.
@nl
P2093
P2860
P356
P1476
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis
@en
P2093
A R Fielder
M W Kilpatrick
P Fullwood
P2860
P304
P356
10.1136/BJO.77.3.168
P407
P577
1993-03-01T00:00:00Z