Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

@article{Bebbington2008InvestigatingGR,
  title={Investigating genotype-phenotype relationships in Rett syndrome using an international data set.},
  author={Ami Bebbington and Alison Anderson and David Ravine and Samantha Fyfe and Merc{\'e}des Pineda and Nicholas de Klerk and Bruria Ben-Zeev and N Yatawara and Adrian Percy and Walter E. Kaufmann and Helen Leonard},
  journal={Neurology},
  year={2008},
  volume={70 11},
  pages={868-75}
}
BACKGROUND Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in a population-based cohort. METHOD The data set for these… CONTINUE READING

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