Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect. [electronic resource]
Producer: 20160415Description: 1329-38 p. digitalISSN:- 1552-4833
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- Cohort Studies
- Dwarfism -- genetics
- Female
- Follow-Up Studies
- Genetic Association Studies
- Genetic Testing
- Genotype
- Growth Disorders -- genetics
- Heterozygote
- Homeodomain Proteins -- genetics
- Homozygote
- Humans
- Mutation
- Osteochondrodysplasias -- genetics
- Pedigree
- Phenotype
- Sequence Deletion
- Short Stature Homeobox Protein
No physical items for this record
Publication Type: Journal Article
There are no comments on this title.
Log in to your account to post a comment.