A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
case_report · Level V
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Abstract
We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.
Medical subject headings
- Intellectual Disability
- Methyl-CpG-Binding Protein 2
- Mutation