Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
Tompson, Stuart W
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. [electronic resource] - Ophthalmic genetics - 43-50 p. digital
Publication Type: Journal Article
1744-5094
10.1080/13816810.2016.1275018 doi
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
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. [electronic resource] - Ophthalmic genetics - 43-50 p. digital
Publication Type: Journal Article
1744-5094
10.1080/13816810.2016.1275018 doi
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