Richner-Hanhart syndrome: importance of early diagnosis and early intervention.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8912606.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Fewer than 100 cases of Richner-Hanhart syndrome have been reported. We describe two additional patients who have the classic clinical, biochemical, and microscopic features of this syndrome.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- Intellectual Disability
- Keratoderma, Palmoplantar
- Tyrosine Transaminase