Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands

J Pediatr. 2019 Apr:207:257-257.e1. doi: 10.1016/j.jpeds.2018.11.030. Epub 2018 Dec 20.
No abstract available

Keywords: BSCL2; body fat distribution; clinical features; leptin deficiency; palmoplantar mechanical fat; seipin.

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases / genetics*
  • Acyltransferases / metabolism
  • Adipose Tissue / diagnostic imaging*
  • Adolescent
  • DNA / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • GTP-Binding Protein gamma Subunits / genetics*
  • GTP-Binding Protein gamma Subunits / metabolism
  • Genetic Testing / methods
  • Humans
  • Lipodystrophy, Congenital Generalized / diagnosis*
  • Lipodystrophy, Congenital Generalized / genetics
  • Lipodystrophy, Congenital Generalized / metabolism
  • Mutation*

Substances

  • BSCL2 protein, human
  • GTP-Binding Protein gamma Subunits
  • DNA
  • Acyltransferases
  • 2-acylglycerophosphate acyltransferase