X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient. [electronic resource]
Producer: 20150421Description: 2472-8 p. digitalISSN:- 1539-2864
- Adult
- Consanguinity
- DNA Mutational Analysis
- Electroretinography
- Eye Proteins -- genetics
- Female
- Fluorescein Angiography
- Homozygote
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Retinal Pigments -- genetics
- Retinoschisis -- diagnosis
- Tomography, Optical Coherence
- Young Adult
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Publication Type: Case Reports; Journal Article
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