Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Ophthalmology"
DOI: 10.1155/2017/3080245
Abstract: Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort… read more here.
Keywords: exudative vitreoretinopathy; genotype phenotype; phenotype characterization; familial exudative ... See more keywords
A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes
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DOI: 10.3390/genes13030495
Abstract: While Inherited Retinal Diseases (IRDs) are typically considered rare diseases, Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie Disease (ND) are more rare than retinitis pigmentosa. We wanted to determine if multigenic protein-altering variants are common in… read more here.
Keywords: fevr; exudative vitreo; familial exudative; protein altering ... See more keywords