A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. [electronic resource]
Producer: 20180118Description: 653-655 p. digitalISSN:- 1435-232X
- ATP-Dependent Proteases -- genetics
- Child
- Craniofacial Abnormalities -- genetics
- Exome -- genetics
- Eye Abnormalities -- genetics
- Frameshift Mutation -- genetics
- Genetic Predisposition to Disease
- Growth Disorders -- genetics
- Hip Dislocation, Congenital -- genetics
- Humans
- Intellectual Disability -- genetics
- Male
- Mitochondrial Proteins -- genetics
- Osteochondrodysplasias -- genetics
- Protein Domains -- genetics
- Spinocerebellar Degenerations -- genetics
- Tooth Abnormalities -- genetics
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.