Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 24368735.
- Also identified by DOI 10.7554/eLife.01873 and PMC identifier 3870571.
- 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
Long predicted from studies of model vertebrates, the first human example of abnormal patterning of the early neural tube leading to underdevelopment of the cerebellum has been demonstrated.
Medical subject headings
- CHARGE Syndrome
- Cerebellar Vermis
- Fibroblast Growth Factor 8
- Homeodomain Proteins
- Otx Transcription Factors