Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

@article{Motley1997RhizomelicCP,
  title={Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor},
  author={Alison M. Motley and Ewald H. Hettema and Eveline M. Hogenhout and P. M. T. Brites and Anneloor L. M. A. ten Asbroek and Frits A. Wijburg and Frank Baas and Hugo S. A. Heijmans and Henk F. Tabak and Ronald J. A. Wanders and B. Distel},
  journal={Nature Genetics},
  year={1997},
  volume={15},
  pages={377-380}
}
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately short stature primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation. Although some patients have single enzyme deficiencies, the majority of RCDP patients (86%) belong to a single complementation group (CG11, also known as complementation group I, Amsterdam… CONTINUE READING