Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Nikopoulos, Konstantinos

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. [electronic resource] - Investigative ophthalmology & visual science Jul 2011 - 4774-9 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

1552-5783

10.1167/iovs.10-7128 doi


Adult
Aged
Arthritis--diagnosis
Collagen Type IX--genetics
Connective Tissue Diseases--diagnosis
DNA--genetics
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Hearing Loss, Sensorineural--diagnosis
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
Prognosis
Retinal Detachment--diagnosis
Tomography, Optical Coherence
Visual Acuity