Clinical Utility Gene Card for: Familial partial lipodystrophy

Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.102. Epub 2016 Aug 3.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis Regulatory Proteins
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Humans
  • Lamin Type A / genetics*
  • Lipodystrophy, Familial Partial / diagnosis
  • Lipodystrophy, Familial Partial / genetics*
  • PPAR gamma / genetics*
  • Perilipin-1 / genetics*
  • Phenotype
  • Proteins / genetics*
  • Sterol Esterase / genetics*

Substances

  • Apoptosis Regulatory Proteins
  • CIDEC protein, human
  • LMNA protein, human
  • Lamin Type A
  • PLIN1 protein, human
  • PPAR gamma
  • Perilipin-1
  • Proteins
  • Sterol Esterase