[Keratinisation disorders - No end of new developments!]

Ann Dermatol Venereol. 2018 Jan;145(1):76-77. doi: 10.1016/j.annder.2017.11.014. Epub 2017 Dec 28.
[Article in French]
No abstract available

Publication types

  • Review

MeSH terms

  • Arteries / abnormalities
  • Arteries / pathology
  • Bone and Bones / abnormalities
  • Bone and Bones / pathology
  • Chromosome Mapping
  • Connective Tissue Diseases / genetics
  • Connective Tissue Diseases / pathology
  • Contracture / genetics
  • Contracture / pathology
  • Exome
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Association Studies
  • Humans
  • Ichthyosis, Lamellar / genetics
  • Keratosis / genetics*
  • Keratosis / pathology
  • Mutation
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / deficiency
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics
  • Rupture, Spontaneous / genetics
  • Rupture, Spontaneous / pathology
  • Sequence Analysis, DNA

Substances

  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Supplementary concepts

  • Bone Fragility with Contractures, Arterial Rupture, and Deafness