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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Biomarkers
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CHARGE Syndrome / complications*
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CHARGE Syndrome / diagnosis*
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CHARGE Syndrome / etiology
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DNA Helicases / genetics
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DNA-Binding Proteins / genetics
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Heterozygote
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Humans
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Immunophenotyping
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Lymphocyte Count
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Male
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Mutation
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Phenotype
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Severe Combined Immunodeficiency / complications*
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Severe Combined Immunodeficiency / diagnosis*
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Severe Combined Immunodeficiency / etiology
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T-Lymphocyte Subsets / immunology*
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T-Lymphocyte Subsets / metabolism
Substances
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Biomarkers
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DNA-Binding Proteins
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DNA Helicases
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CHD7 protein, human