Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

@article{Sabbagh2009UnravellingTG,
  title={Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.},
  author={Audrey Sabbagh and Eric Pasmant and Ingrid Laurendeau and B{\'e}atrice Parfait and S{\'e}bastien Barbarot and Bernard Guillot and Patrick Combemale and Salah Ferkal and Michel Vidaud and Patrick R Aubourg and Dominique Vidaud and Pierre Wolkenstein},
  journal={Human molecular genetics},
  year={2009},
  volume={18 15},
  pages={2768-78}
}
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 750 NF1 patients from 275 multiplex families collected through the NF-France Network. Twelve NF1-related clinical features, including five quantitative traits (number of café-au-lait spots of small… CONTINUE READING