TY  - GEN
AU  - Tan,M H
AU  - Vanakker,O M
AU  - Tran,H V
AU  - Robson,A G
AU  - Lai-Cheong,J E
AU  - Groves,R
AU  - Holder,G E
AU  - Moore,A T
TI  - Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene
SN  - 1476-5454
PY  - 2012///0718
KW  - Angioid Streaks
KW  - diagnosis
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Exons
KW  - genetics
KW  - Fluorescein Angiography
KW  - Gene Duplication
KW  - Humans
KW  - Male
KW  - Multidrug Resistance-Associated Proteins
KW  - Mutation
KW  - Pseudoxanthoma Elasticum
KW  - Retina
KW  - physiology
KW  - Retinal Diseases
KW  - Visual Acuity
KW  - Young Adult
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1038/eye.2011.344
ER  -