No abstract available
MeSH terms
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Agenesis of Corpus Callosum / genetics
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Agenesis of Corpus Callosum / pathology*
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Autophagy / physiology
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Autophagy-Related Proteins
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Cataract / genetics
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Cataract / pathology*
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Cerebellar Cortex / pathology*
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Fatal Outcome
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Humans
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Immunohistochemistry
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Infant
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Lysosomal Membrane Proteins
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Male
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Myocardium / pathology*
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Proteins / genetics*
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Vesicular Transport Proteins
Substances
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Autophagy-Related Proteins
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EPG5 protein, human
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Lysosomal Membrane Proteins
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Proteins
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Vesicular Transport Proteins
Supplementary concepts
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Absent corpus callosum cataract immunodeficiency