Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
Language English Country England, Great Britain Media print-electronic
Document type Case Reports, Letter, Research Support, Non-U.S. Gov't
PubMed
30733140
DOI
10.1016/j.parkreldis.2019.01.017
PII: S1353-8020(19)30017-3
Knihovny.cz E-resources
- Keywords
- Ataxia, Brain iron accumulation, Dystonia, Epileptic encephalopathy, IRF2BPL,
- MeSH
- Adult MeSH
- Phenotype * MeSH
- Nuclear Proteins genetics MeSH
- Humans MeSH
- Mutation genetics MeSH
- Neurodevelopmental Disorders diagnostic imaging genetics MeSH
- Carrier Proteins genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Letter MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- IRF2BPL protein, human MeSH Browser
- Nuclear Proteins MeSH
- Carrier Proteins MeSH
Department of Forensic Medicine Medical University of Warsaw Warsaw Poland
Department of Medical Genetics Medical University of Warsaw Warsaw Poland
Department of Neurology Faculty of Medicine P J Safarik University Kosice Slovak Republic
Department of Radiology University Hospital of L Pasteur Kosice Slovak Republic
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