Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis

J Invest Dermatol. 2021 Mar;141(3):688-692.e11. doi: 10.1016/j.jid.2020.06.036. Epub 2020 Aug 11.
No abstract available

Publication types

  • Letter
  • Observational Study
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Biopsy
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Cells, Cultured
  • DNA Mutational Analysis
  • Female
  • Fibroblasts
  • Humans
  • Intravital Microscopy
  • MAP Kinase Kinase 1 / genetics*
  • Male
  • Melorheostosis / diagnosis
  • Melorheostosis / genetics*
  • Melorheostosis / pathology
  • Middle Aged
  • Primary Cell Culture
  • Prospective Studies
  • Skin / pathology
  • Young Adult

Substances

  • MAP Kinase Kinase 1
  • MAP2K1 protein, human