The spectrum of phenotypes in females with Rett Syndrome

@article{Huppke2003TheSO,
  title={The spectrum of phenotypes in females with Rett Syndrome},
  author={P. Huppke and M. Held and F. Laccone and F. Hanefeld},
  journal={Brain and Development},
  year={2003},
  volume={25},
  pages={346-351}
}
  • P. Huppke, M. Held, +1 author F. Hanefeld
  • Published 2003
  • Biology, Medicine
  • Brain and Development
  • Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in Rett Syndrome (RTT) a large number of females have been diagnosed worldwide. In this article we present the clinical and developmental data of 120 RTT females with mutations in the MECP2 gene and individually describe typical and atypical cases. We found a broad spectrum of phenotypes in females. At the severest end we have females with primary developmental delay who never learned to turn, sit or walk and who… CONTINUE READING
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