Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. [electronic resource]
Producer: 20110906Description: 4774-9 p. digitalISSN:- 1552-5783
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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