Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. [electronic resource]
Producer: 20021125Description: 728-34 p. digitalISSN:- 0002-9394
- Adolescent
- Adult
- Alternative Splicing
- Child
- Child, Preschool
- Codon, Terminator -- genetics
- Collagen Type II -- genetics
- Connective Tissue Diseases -- diagnosis
- DNA Mutational Analysis
- Exons
- Eye Diseases, Hereditary -- diagnosis
- Female
- Genetic Linkage
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Prospective Studies
- Retinal Degeneration -- diagnosis
- Retinal Detachment -- diagnosis
- Retinal Vessels -- pathology
- Retrospective Studies
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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