Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.

@article{Houeijeh2011ThrombocytopeniaabsentR,
  title={Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.},
  author={Ali Houeijeh and Joris Loup Andrieux and Pascale Saugier-V{\'e}ber and Albert David and Alice Goldenberg and D. Bonneau and Marc Fouassier and Hubert Journel and Jelana Martinovic and Fabienne Escande and Louise Devisme and Sophie Bisiaux and Caroline Chaffiotte and Mathilde Baux and J. Kerckaert and Muriel Holder-Espinasse and Sylvie Manouvrier-Hanu},
  journal={European journal of medical genetics},
  year={2011},
  volume={54 5},
  pages={e471-7}
}
Thrombocytopenia-absent radius Syndrome (TAR) is a rare congenital malformation syndrome of complicated transmission. 1q21.1 deletion is necessary but not sufficient for its expression. We report the result of a French multicentric clinical study, and we emphasized on the role of the associated 1q21.1 deletion in the diagnosis and the genetic counselling of… CONTINUE READING