CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)

Eur J Hum Genet. 2016 May;24(5). doi: 10.1038/ejhg.2015.205. Epub 2015 Oct 7.
No abstract available

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Genetic Testing*
  • Humans
  • Muscular Diseases / diagnosis
  • Muscular Diseases / epidemiology
  • Muscular Diseases / genetics*
  • Mutation
  • Pulmonary Fibrosis / diagnosis
  • Pulmonary Fibrosis / epidemiology
  • Pulmonary Fibrosis / genetics*
  • Sclerosis / diagnosis
  • Sclerosis / epidemiology
  • Sclerosis / genetics*
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / epidemiology
  • Skin Abnormalities / genetics*
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / epidemiology
  • Skin Diseases, Genetic / genetics*
  • Syndrome

Substances

  • Cell Cycle Proteins
  • FAM111B protein, human

Supplementary concepts

  • Poikiloderma, Hereditary Sclerosing