Publikace na 2. lékařská fakulta |
2013
Abstrakt
Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially transcription factors are candidates.
Several genes (BSCL1-4) were found to be associated to the syndrome but not all CGL patients carry mutations in these genes.