Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

Br J Dermatol. 2017 Feb;176(2):534-536. doi: 10.1111/bjd.14845. Epub 2016 Dec 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Cell Cycle Proteins / genetics*
  • Contracture / genetics*
  • Female
  • Humans
  • Mutation, Missense / genetics*
  • Pulmonary Fibrosis / genetics*
  • Sclerosis / genetics*
  • Skin Abnormalities / genetics*
  • Skin Diseases, Genetic / genetics*
  • Syndrome

Substances

  • Cell Cycle Proteins
  • FAM111B protein, human

Supplementary concepts

  • Poikiloderma, Hereditary Sclerosing