A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism 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. [more...]
