Skin manifestations in CDG

@article{Rymen2014SkinMI,
  title={Skin manifestations in CDG},
  author={Daisy Rymen and Jaak Jaeken},
  journal={Journal of Inherited Metabolic Disease},
  year={2014},
  volume={37},
  pages={699-708}
}
The group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders described to date. A great phenotypic variability exists, ranging from multisystem disease to single organ involvement. Skin manifestations, although inconsistently present, are part of this broad clinical… CONTINUE READING