1. Figure 3 Rett syndrome severity and age at diagnosis by mutation type
Figure 3 | Rett syndrome severity and age at diagnosis by mutation type. a | Association between clinical severity and methyl-CpG-binding protein 2 (MECP2) mutation type in 974 individuals with Rett syndrome (RTT) assessed via the Percy score, and 776 assessed via the Pineda score. Data points are the mean scores adjusted for age and data source, with 95% confidence intervals. Permission obtained from Macmillan Publishers Ltd © Bebbington, A. Eur. J. Hum. Genet. 20, 921–927 (2012)129. b | Age at diagnosis by mutation type in 1,040 individuals with RTT. Data points indicate the median age. Data from the Australian and International Rett Syndrome (InterRett) databases.
Permission obtained from Macmillan Publishers Ltd © Bebbington, A. Eur. J. Hum. Genet. 20, 921–927 (2012).
Leonard, H. et al. (2016) Clinical and biological progress over 50 years in Rett syndrome
Nat. Rev. Neurol. doi: /nrneurol