Extreme phenotypes of Loeys Dietz syndrome

Clin Dysmorphol. 2017 Apr;26(2):91-94. doi: 10.1097/MCD.0000000000000173.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Female
  • Humans
  • Loeys-Dietz Syndrome / diagnosis*
  • Loeys-Dietz Syndrome / genetics
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype*
  • Protein Serine-Threonine Kinases / genetics
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics

Substances

  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II