Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension

Am J Med Genet A. 2014 Aug;164A(8):2121-3. doi: 10.1002/ajmg.a.36568. Epub 2014 Apr 21.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Activin Receptors, Type II / genetics*
  • Adolescent
  • Fatal Outcome
  • Female
  • Humans
  • Hypertension, Pulmonary / diagnosis*
  • Hypertension, Pulmonary / genetics*
  • Mosaicism*
  • Mutation
  • Severity of Illness Index
  • Young Adult

Substances

  • ACVRL1 protein, human
  • Activin Receptors, Type II