A pediatric genetic disorder diagnosed in adulthood.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 16435889.
- Also identified by PMC identifier 1360621.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Church's case report is a reminder that "pediatric" genetic diseases are not limited to children.
Medical subject headings
- Genetic Diseases, Inborn
- Proteins
- Pseudogenes