A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism

作者：Juelich Kristina; Horn Denise; Burfeind Peter; Erler Thomas; Auber Bernd

来源：Journal of Pediatrics, 2009, 155(1): 140-143.

DOI：10.1016/j.jpeds.2009.01.035

Methly-CpG-binding protein 2 (MECP2) mutations cause Rett syndrome in females. Here we 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. (J Pediatr 2009; 155:140-3)

• 出版日期2009-7
• 单位河北医科大学