Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.68. Epub 2011 Apr 27.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / physiopathology
  • Aortic Aneurysm, Thoracic / genetics
  • Cleft Palate / genetics
  • DNA Mutational Analysis
  • Genotype
  • Humans
  • Hypertelorism / genetics
  • Loeys-Dietz Syndrome / diagnosis*
  • Loeys-Dietz Syndrome / genetics*
  • Loeys-Dietz Syndrome / physiopathology
  • Marfan Syndrome* / diagnosis
  • Marfan Syndrome* / genetics
  • Marfan Syndrome* / physiopathology
  • Mutation
  • Phenotype
  • Protein Serine-Threonine Kinases / genetics*
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Sensitivity and Specificity

Substances

  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptor, Transforming Growth Factor-beta Type II
  • TGFBR1 protein, human