A monozygotic twin pair with highly discordant Gaucher phenotypes.

  title={A monozygotic twin pair with highly discordant Gaucher phenotypes.},
  author={Marieke Biegstraaten and Ivo N. van Schaik and Johannes M. F. G. Aerts and Mirjam Langeveld and Marcel M. A. M. Mannens and L. J. Bour and Ellen Sidransky and Nahid Tayebi and Elaine Fitzgibbon and Carla E. M. Hollak},
  journal={Blood cells, molecules & diseases},
  volume={46 1},
We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of Gaucher disease but suffers from type 1… CONTINUE READING