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Article

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2009

Gomes Karina Braga, Pardini Victor Cavalcanti, Fernandes Ana Paula

Abstract excerpt

Congenital Generalized Lipodystrophy (CGL) or Berardinelli-Seip Syndrome (BSCL) is a rare autosomal recessive disease characterized by complete absence of adipose tissue and by several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries. Mental retardation and psychiatric disturbances are present in a variable proportion of affected patients....

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PMID: 19167372
DOI: 10.1016/j.cca.2008.12.032

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