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