1.
Neurology
; 67(5): 867-8, 2006 Sep 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16966553
RESUMO
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.