Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.53. Epub 2016 May 18.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyltransferases / genetics
  • Caveolin 1 / genetics
  • GTP-Binding Protein gamma Subunits / genetics
  • Genetic Testing
  • Genotype
  • Humans
  • Lipodystrophy, Congenital Generalized / diagnosis*
  • Lipodystrophy, Congenital Generalized / epidemiology
  • Lipodystrophy, Congenital Generalized / genetics*
  • Mutation
  • Pathology, Molecular
  • RNA-Binding Proteins / genetics
  • Risk Assessment*
  • Sensitivity and Specificity

Substances

  • BSCL2 protein, human
  • CAV1 protein, human
  • CAVIN1 protein, human
  • Caveolin 1
  • GTP-Binding Protein gamma Subunits
  • RNA-Binding Proteins
  • Acyltransferases
  • 2-acylglycerophosphate acyltransferase