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See Latest ArticlesNovel mutations of the BSCL2 and AGPAT2 genes in 10 families with BerardinelliSeip congenital generalized lipodystrophy syndrome
Clinical Endocrinology, 09/22/09
Miranda DM et al. – Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes. This syndrome is characterized by an almost complete loss of adipose tissue usually diagnosed at birth or early infancy resulting in apparent muscle hypertrophy. The authors have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli–Seip syndrome and Brunzell syndrome (AGPAT2–related syndrome).
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