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Lookup NU author(s): Dr Vankateswara Ramesh,
Professor Sunil Sinha
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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.
Author(s): Lynch SA, Whatley SD, Ramesh V, Sinha S, Ravine D
Publication type: Article
Publication status: Published
Journal: Archives of Disease in Childhood: Fetal and Neonatal Edition
Print publication date: 01/05/2003
ISSN (print): 1359-2998
ISSN (electronic): 1468-2052
Publisher: BMJ Group
PubMed id: 12719401
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