Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

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 of Italian FEVR patients. Eight probands (age r...

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Detalles Bibliográficos
Autores principales: Iarossi, Giancarlo, Bertelli, Matteo, Maltese, Paolo Enrico, Gusson, Elena, Marchini, Giorgio, Bruson, Alice, Benedetti, Sabrina, Volpetti, Sabrina, Catena, Gino, Buzzonetti, Luca, Ziccardi, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516747/
https://www.ncbi.nlm.nih.gov/pubmed/28758032
http://dx.doi.org/10.1155/2017/3080245

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