X chromosome-inactivation patterns in patients with Rett syndrome

@article{Krepischi1998XCP,
  title={X chromosome-inactivation patterns in patients with Rett syndrome},
  author={A. C. Victorino Krepischi and Fernando Kok and Priscila Guimar{\~a}es Otto},
  journal={Human Genetics},
  year={1998},
  volume={102},
  pages={319-321}
}
Rett syndrome (RS) is a complex and severely disabling neurologic disorder, restricted to females. As non-random X inactivation could indicate that the X chromosome has a role in the etiology of the syndrome, we performed molecular analysis based on the differential methylation of the active and inactive X chromosomes with probe M27β, taking into account the parental origin of the two Xs, in 24 RS girls (including a pair of concordant monozygote twins), 22 mothers, and a control group of 30… CONTINUE READING

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