Goldmann-Favre Syndrome: Case Series

Goldmann-Favre syndrome, which is caused by mutation of the NR2E3 gene, is a retinal degenerative disease with a wide spectrum of phenotypic properties. Variations in clinical presentation result in difficulties in differential diagnosis. In this article, Goldmann-Favre syndrome cases with different...

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Detalles Bibliográficos
Autores principales: Özateş, Serdar, Tekin, Kemal, Teke, Mehmet Yasin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5854860/
https://www.ncbi.nlm.nih.gov/pubmed/29576899
http://dx.doi.org/10.4274/tjo.76158
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author Özateş, Serdar
Tekin, Kemal
Teke, Mehmet Yasin
author_facet Özateş, Serdar
Tekin, Kemal
Teke, Mehmet Yasin
author_sort Özateş, Serdar
collection PubMed
description Goldmann-Favre syndrome, which is caused by mutation of the NR2E3 gene, is a retinal degenerative disease with a wide spectrum of phenotypic properties. Variations in clinical presentation result in difficulties in differential diagnosis. In this article, Goldmann-Favre syndrome cases with different clinical findings are presented. Clinical characteristics of our cases were reviewed and discussed in light of the literature.
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spelling pubmed-58548602018-03-23 Goldmann-Favre Syndrome: Case Series Özateş, Serdar Tekin, Kemal Teke, Mehmet Yasin Turk J Ophthalmol Case Report Goldmann-Favre syndrome, which is caused by mutation of the NR2E3 gene, is a retinal degenerative disease with a wide spectrum of phenotypic properties. Variations in clinical presentation result in difficulties in differential diagnosis. In this article, Goldmann-Favre syndrome cases with different clinical findings are presented. Clinical characteristics of our cases were reviewed and discussed in light of the literature. Galenos Publishing 2018-02 2018-02-23 /pmc/articles/PMC5854860/ /pubmed/29576899 http://dx.doi.org/10.4274/tjo.76158 Text en ©2018 Turkish Journal of Ophthalmology, Published by Galenos Publishing. urlcontent This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Özateş, Serdar
Tekin, Kemal
Teke, Mehmet Yasin
Goldmann-Favre Syndrome: Case Series
title Goldmann-Favre Syndrome: Case Series
title_full Goldmann-Favre Syndrome: Case Series
title_fullStr Goldmann-Favre Syndrome: Case Series
title_full_unstemmed Goldmann-Favre Syndrome: Case Series
title_short Goldmann-Favre Syndrome: Case Series
title_sort goldmann-favre syndrome: case series
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5854860/
https://www.ncbi.nlm.nih.gov/pubmed/29576899
http://dx.doi.org/10.4274/tjo.76158
work_keys_str_mv AT ozatesserdar goldmannfavresyndromecaseseries
AT tekinkemal goldmannfavresyndromecaseseries
AT tekemehmetyasin goldmannfavresyndromecaseseries

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