No abstract available
Keywords:
Ataxia; Brain iron accumulation; Dystonia; Epileptic encephalopathy; IRF2BPL.
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Carrier Proteins / genetics*
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Female
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Humans
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Mutation / genetics*
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Neurodevelopmental Disorders / diagnostic imaging*
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Neurodevelopmental Disorders / genetics*
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Nuclear Proteins / genetics*
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Phenotype*
Substances
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Carrier Proteins
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IRF2BPL protein, human
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Nuclear Proteins