Article
Genetic basis of congenital generalized lipodystrophy.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity - 1 Feb 2004
Agarwal A K, Barnes R I, Garg A
Abstract excerpt
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by extreme lack of body fat and severe insulin resistance since birth. Recently, mutations have been reported in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2 or Seipin) genes in affected subjects from pedigrees linked to chromosomes 9q34 and 11q13,...
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