A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. [electronic resource]
Producer: 19910909Description: 401-8 p. digitalISSN:- 0009-9163
- Abnormalities, Multiple -- etiology
- Chromosome Aberrations -- etiology
- Chromosome Disorders
- Chromosome Inversion
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Collagen -- genetics
- Female
- Genes, Homeobox -- genetics
- Genes, Recessive -- genetics
- Humans
- Infant, Newborn
- Karyotyping
- Osteochondrodysplasias -- congenital
- Phenotype
- Syndrome
- Thanatophoric Dysplasia -- etiology
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.