Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.

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Serval ID
serval:BIB_5E6BEEFE74B7
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Production externe
Title
Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.
Journal
Eye
Author(s)
Tan M.H., Vanakker O.M., Tran H.V., Robson A.G., Lai-Cheong J.E., Groves R., Holder G.E., Moore A.T.
ISSN
1476-5454 (Electronic)
ISSN-L
0950-222X
Publication state
Published
Issued date
05/2012
Peer-reviewed
Oui
Volume
26
Number
5
Pages
753-755
Language
english
Notes
Publication types: Case Reports ; Letter
Publication Status: ppublish
Keywords
Angioid Streaks/diagnosis, Angioid Streaks/genetics, Angioid Streaks/physiopathology, Consanguinity, DNA Mutational Analysis, Electroretinography, Exons/genetics, Fluorescein Angiography, Gene Duplication, Humans, Male, Multidrug Resistance-Associated Proteins/genetics, Mutation, Pseudoxanthoma Elasticum/diagnosis, Pseudoxanthoma Elasticum/genetics, Pseudoxanthoma Elasticum/physiopathology, Retina/physiology, Retinal Diseases/diagnosis, Retinal Diseases/genetics, Retinal Diseases/physiopathology, Visual Acuity, Young Adult
DOI
10.1038/eye.2011.344
Pubmed
22261738
Web of science
000303937400026
Open Access
Yes
Create date
01/03/2012 15:19
Last modification date
01/03/2024 15:11
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