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Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

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References

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Acknowledgments

We are grateful to the patients and the parents of the families for their cooperation. We thank K. Hoffmann and S. Kübart for the excellent technical assistance.

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The authors declare no conflict of interest.

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Correspondence to Vera M. Kalscheuer.

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Rademacher, N., Hambrock, M., Fischer, U. et al. Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12, 165–167 (2011). https://doi.org/10.1007/s10048-011-0277-6

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  • DOI: https://doi.org/10.1007/s10048-011-0277-6

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