| Literature DB >> 12719401 |
S A Lynch1, S D Whatley, V Ramesh, S Sinha, D Ravine.
Abstract
The case of a male infant with neonatal encephalopathy and a de novo MECP2 mutation is reported. The presenting phenotype of decelerating head growth, spasticity, scoliosis, and central respiratory disturbance raised suspicions of the diagnosis. Neonatal encephalopathy in males is part of a spectrum of disorders caused by MECP2 dysfunction.Entities:
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Year: 2003 PMID： 12719401 PMCID： PMC1721560 DOI： 10.1136/fn.88.3.f250
Source DB: PubMed Journal: Arch Dis Child Fetal Neonatal Ed ISSN： 1359-2998 Impact factor: 5.747