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    J Pediatr. 2009 Jul;155(1):140-3.

    A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.

    Jülich K, Horn D, Burfeind P, Erler T, Auber B.

    Department of Pediatric Neurology, Charité-University Medical Center, Berlin, Germany. kristina.juelich@charite.de

    Methly-CpG-binding protein 2 (MECP2) mutations cause Rett syndrome in females. Here we 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.

    PMID: 19559301 [PubMed - indexed for MEDLINE]

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