A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19559301.
- Also identified by DOI 10.1016/j.jpeds.2009.01.035.
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Abstract
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.
Medical subject headings
- Craniofacial Abnormalities
- Frameshift Mutation
- Methyl-CpG-Binding Protein 2
- Microcephaly
- Rett Syndrome