Rett Syndrome.

@article{Smeets2012RettS,
  title={Rett Syndrome.},
  author={Eric E J G L Smeets and Karine Pelc and Bernard Dan},
  journal={Molecular syndromology},
  year={2012},
  volume={2 3-5},
  pages={113-127}
}
Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a… CONTINUE READING

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