T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease

Eur Respir J. 2019 Aug 22;54(2):1900388. doi: 10.1183/13993003.00388-2019. Print 2019 Aug.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Biopsy
  • Bone Morphogenetic Protein Receptors, Type II / genetics
  • Echocardiography
  • Female
  • Fibrosis / diagnostic imaging
  • Fibrosis / genetics
  • Humans
  • Lung / diagnostic imaging
  • Lung / pathology
  • Mutation*
  • Pulmonary Arterial Hypertension / diagnostic imaging
  • Pulmonary Arterial Hypertension / genetics*
  • Pulmonary Emphysema / diagnostic imaging
  • Pulmonary Emphysema / genetics
  • T-Box Domain Proteins / genetics*
  • Tomography, X-Ray Computed

Substances

  • T-Box Domain Proteins
  • TBX4 protein, human
  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II