COL3A1 Missense Variant in a Patient Presenting With Hemoptysis

Circ Genom Precis Med. 2021 Oct;14(5):e003386. doi: 10.1161/CIRCGEN.121.003386. Epub 2021 Sep 30.
No abstract available

Keywords: Ehlers-Danlos syndrome; flank pain; hemoptysis; hydropneumothorax; renal artery.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen Type III / genetics*
  • Female
  • Genetic Diseases, Inborn / diagnostic imaging
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / pathology
  • Genetic Diseases, Inborn / therapy
  • Hemoptysis / diagnostic imaging
  • Hemoptysis / genetics*
  • Hemoptysis / pathology
  • Hemoptysis / urine
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree

Substances

  • COL3A1 protein, human
  • Collagen Type III