title: Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.
authors.forename: M H
authors.initials: MH
authors.lastname: Tan
authors.forename: O M
authors.initials: OM
authors.lastname: Vanakker
authors.forename: H V
authors.initials: HV
authors.lastname: Tran
authors.forename: A G
authors.initials: AG
authors.lastname: Robson
authors.forename: J E
authors.initials: JE
authors.lastname: Lai-Cheong
authors.forename: R
authors.initials: R
authors.lastname: Groves
authors.forename: G E
authors.initials: GE
authors.lastname: Holder
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D000793:Angioid Streaks / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005451:Fluorescein Angiography; D020440:Gene Duplication; D006801:Humans; D008297:Male; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012160:Retina / Q000502:physiology; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human