Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients

Abstract

The Berardinelli–Seip congenital lipodystrophy (BSCL) syndrome is characterized by a near-total congenital absence of fat and predisposition to develop diabetes mellitus. We have previously reported that 22 patients from 16 consanguineous pedigrees living in the northeastern region of Brazil had a homozygous 669insA mutation in the Seipin gene (BSCL2 locus… (More)
DOI: 10.1007/s10545-005-0038-5

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@article{Gomes2005PhenotypicHI, title={Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients}, author={Karlla Celma Batista Lima Gomes and V. Cavalcanti Pardini and A. Clayton de Souza Ferreira and A P Fernandes}, journal={Journal of Inherited Metabolic Disease}, year={2005}, volume={28}, pages={1123-1131} }