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

作者信息

Tan M H, Vanakker O M, Tran H V, Robson A G, Lai-Cheong J E, Groves R, Holder G E, Moore A T

出版信息

Eye (Lond). 2012 May;26(5):753-5. doi: 10.1038/eye.2011.344. Epub 2012 Jan 20.

Abstract
摘要

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本文引用的文献

1
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6. doi: 10.1167/iovs.05-1604.
3
Spectrum of pattern dystrophy in pseudoxanthoma elasticum.
Arch Ophthalmol. 2005 Jul;123(7):923-8. doi: 10.1001/archopht.123.7.923.
4
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Hum Mutat. 2004 Nov;24(5):438-9. doi: 10.1002/humu.9284.
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Mutations in ABCC6 cause pseudoxanthoma elasticum.
Nat Genet. 2000 Jun;25(2):228-31. doi: 10.1038/76109.
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Dark adaptation and scotopic perimetry over 'peau d'orange' in pseudoxanthoma elasticum.
Br J Ophthalmol. 1994 Jan;78(1):79-80. doi: 10.1136/bjo.78.1.79-a.

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