TY  - GEN
AU  - Tompson,Stuart W
AU  - Johnson,Charles
AU  - Abbott,Diana
AU  - Bakall,Benjamin
AU  - Soler,Vincent
AU  - Yanovitch,Tammy L
AU  - Whisenhunt,Kristina N
AU  - Klemm,Thomas
AU  - Rozen,Steve
AU  - Stone,Edwin M
AU  - Johnson,Max
AU  - Young,Terri L
TI  - Reduced penetrance in a large Caucasian pedigree with Stickler syndrome
SN  - 1744-5094
PY  - 2017///1113
KW  - Adult
KW  - Aged
KW  - Arthritis
KW  - diagnosis
KW  - Child
KW  - Chromosome Mapping
KW  - Codon, Nonsense
KW  - Collagen Type II
KW  - genetics
KW  - Connective Tissue Diseases
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Female
KW  - Genetic Linkage
KW  - Genetic Testing
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Penetrance
KW  - Polymerase Chain Reaction
KW  - Retinal Detachment
KW  - White People
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1080/13816810.2016.1275018
ER  -