Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. [electronic resource]
Producer: 20171113Description: 43-50 p. digitalISSN:- 1744-5094
- Adult
- Aged
- Arthritis -- diagnosis
- Child
- Chromosome Mapping
- Codon, Nonsense
- Collagen Type II -- genetics
- Connective Tissue Diseases -- diagnosis
- DNA Mutational Analysis
- Exome -- genetics
- Female
- Genetic Linkage
- Genetic Testing
- Hearing Loss, Sensorineural -- diagnosis
- Humans
- Male
- Middle Aged
- Pedigree
- Penetrance
- Polymerase Chain Reaction
- Retinal Detachment -- diagnosis
- White People -- genetics
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Publication Type: Journal Article
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