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A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism
The Journal of Pediatrics, 07/01/09
Julich K et al. - Methly-CpG-binding protein 2 mutations cause Rett syndrome in females. Here authros 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.
Today in Neonatology...keeping you current
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Systematic Underestimation of Oxygen Delivery in Ventilated Preterm Infants
Neonatology, 12/09/09
Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome
European Journal of Pediatrics, 12/09/09
Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome
Pediatric Blood & Cancer, 12/09/09
Today in Pediatric Neurology...keeping you current
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BRD2 and TAP-1 genes and juvenile myoclonic epilepsy
Neurological Sciences, 12/09/09
Refractory Metabolic Acidosis as a Complication of High-Dose Midazolam Infusion for Pediatric Status Epilepticus
Clinical Neuropharmacology, 12/09/09
Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes
Seizure - European Journal of Epilepsy, 12/09/09
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