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.
Original language | English |
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Pages (from-to) | 867-868 |
Number of pages | 2 |
Journal | Neurology |
Volume | 67 |
Issue number | 5 |
DOIs | |
Publication status | Published - Sep 2006 |
ASJC Scopus subject areas
- Neuroscience(all)