TY  - GEN
AU  - Nikopoulos,Konstantinos
AU  - Schrauwen,Isabelle
AU  - Simon,Marleen
AU  - Collin,Rob W J
AU  - Veckeneer,Marc
AU  - Keymolen,Kathelijn
AU  - Van Camp,Guy
AU  - Cremers,Frans P M
AU  - van den Born,L Ingeborgh
TI  - Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene
SN  - 1552-5783
PY  - 2011///0906
KW  - Adult
KW  - Aged
KW  - Arthritis
KW  - diagnosis
KW  - Collagen Type IX
KW  - genetics
KW  - Connective Tissue Diseases
KW  - DNA
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Prognosis
KW  - Retinal Detachment
KW  - Tomography, Optical Coherence
KW  - Visual Acuity
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1167/iovs.10-7128
ER  -