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Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. (Case Report)
- Source :
- Archives of Disease in Childhood. Fetal and Neonatal Edition. May 2003, Vol. 88 Issue 3, , F250, p3 p.
- Publication Year :
- 2003
-
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 [...]
Details
- Language :
- English
- ISSN :
- 13592998
- Volume :
- 88
- Issue :
- 3
- Database :
- Gale General OneFile
- Journal :
- Archives of Disease in Childhood. Fetal and Neonatal Edition
- Publication Type :
- Periodical
- Accession number :
- edsgcl.101943370