Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay. [electronic resource]
Producer: 20150612Description: 552-7 p. digitalISSN:- 1878-0849
- Adolescent
- Chromosomes, Human, Pair 17
- Collagen Type I -- genetics
- Collagen Type I, alpha 1 Chain
- Comparative Genomic Hybridization
- Developmental Disabilities -- genetics
- Extracellular Matrix Proteins -- genetics
- Female
- Gene Duplication
- Humans
- Intellectual Disability -- genetics
- Microcephaly -- genetics
- Musculoskeletal Abnormalities -- genetics
- Protein Phosphatase 1 -- genetics
- Sarcoglycans -- genetics
- Scoliosis -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.