Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

  title={Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.},
  author={Peter Huppke and Franco Laccone and Nadine Kraemer and Wolfgang Engel and Folker A Hanefeld},
  journal={Human molecular genetics},
  volume={9 9},
UNLABELLED Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a neuro-developmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills that almost exclusively affects females. We analysed the MECP2 gene in 31 patients diagnosed with RTT. Sequencing of the coding region and the splice sites revealed mutations in 24 females (77.40%). However, no abnormalities were detected in any of… CONTINUE READING


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