COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. [electronic resource]
Producer: 20140515Description: 2663-5 p. digitalISSN:- 1552-4833
- Adult
- Arthritis -- diagnosis
- Child
- Chromosome Banding
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 15
- Collagen Type II -- genetics
- Comparative Genomic Hybridization
- Connective Tissue Diseases -- diagnosis
- Female
- Hearing Loss, Sensorineural -- diagnosis
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Male
- Pregnancy
- Retinal Detachment -- diagnosis
- Translocation, Genetic
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.