Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene. [electronic resource]
Producer: 20120718Description: 753-5 p. digitalISSN:- 1476-5454
- Angioid Streaks -- diagnosis
- Consanguinity
- DNA Mutational Analysis
- Electroretinography
- Exons -- genetics
- Fluorescein Angiography
- Gene Duplication
- Humans
- Male
- Multidrug Resistance-Associated Proteins -- genetics
- Mutation
- Pseudoxanthoma Elasticum -- diagnosis
- Retina -- physiology
- Retinal Diseases -- diagnosis
- Visual Acuity
- Young Adult
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Publication Type: Case Reports; Letter
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