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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

Systematic Underestimation of Oxygen Delivery in Ventilated Preterm Infants
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Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome
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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

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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