Abstract
An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.
Publication types
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Guideline
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Practice Guideline
MeSH terms
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Chromosomal Proteins, Non-Histone*
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DNA-Binding Proteins / genetics*
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Dosage Compensation, Genetic*
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Female
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Humans
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Male
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Methyl-CpG-Binding Protein 2
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Mutation / genetics*
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Phenotype
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Repressor Proteins*
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Rett Syndrome / diagnosis
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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