Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation

Eur Respir J. 2013 Dec;42(6):1757-9. doi: 10.1183/09031936.00149113. Epub 2013 Sep 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Dyskeratosis Congenita / complications
  • Dyskeratosis Congenita / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Mutation*
  • Pneumothorax / complications
  • Pulmonary Fibrosis / complications
  • Pulmonary Fibrosis / genetics*
  • Steroids / therapeutic use
  • Telomere-Binding Proteins / genetics*

Substances

  • Steroids
  • TINF2 protein, human
  • Telomere-Binding Proteins