No abstract available
MeSH terms
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Amino Acid Substitution / genetics
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Brain Diseases, Metabolic, Inborn / etiology
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Brain Diseases, Metabolic, Inborn / genetics
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Chromosomal Proteins, Non-Histone*
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CpG Islands / genetics*
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DNA-Binding Proteins / genetics*
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Developmental Disabilities / genetics
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Female
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Genetic Testing
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Genetic Variation / genetics
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Humans
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Infant
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Intellectual Disability / etiology
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Intellectual Disability / genetics
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Male
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Methyl-CpG-Binding Protein 2
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Microcephaly / genetics
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Pedigree
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Point Mutation / genetics*
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Repressor Proteins / genetics*
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Rett Syndrome / etiology
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Rett Syndrome / genetics
Substances
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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MECP2 protein, human
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Methyl-CpG-Binding Protein 2
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Repressor Proteins