Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

@article{Amir1999RettSI,
  title={Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2},
  author={R. Amir and I. Veyver and M. Wan and C. Q. Tran and U. Francke and H. Zoghbi},
  journal={Nature Genetics},
  year={1999},
  volume={23},
  pages={185-188}
}
  • R. Amir, I. Veyver, +3 authors H. Zoghbi
  • Published 1999
  • Biology, Medicine
  • Nature Genetics
  • Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an incidence of 1 in 10,000–15,000 (ref. 2). Patients with classic RTT appear to develop normally until 6–18 months of age, then gradually lose speech and purposeful hand use, and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After initial regression, the condition stabilizes and… CONTINUE READING
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    The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2… Expand
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    References

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