No abstract available
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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Cerebellum / pathology*
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Child
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Endoribonucleases / genetics*
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Fatal Outcome
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Female
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Genetic Predisposition to Disease / genetics
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Humans
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Infant
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Male
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Mutation*
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Olivopontocerebellar Atrophies / genetics*
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Olivopontocerebellar Atrophies / pathology*
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Pedigree
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Pons / pathology*
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Severity of Illness Index
Substances
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Endoribonucleases
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TSEN54 protein, human
Supplementary concepts
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Pontocerebellar Hypoplasia Type 1