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See Latest ArticlesA Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism
The Journal of Pediatrics, 07/01/09
Julich K et al. - Methly-CpG-binding protein 2 mutations cause Rett syndrome in females. Here authros report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients.
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