Article
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
Clinical endocrinology - 1 Oct 2009
Miranda Debora M, Wajchenberg Bernardo L, Calsolari Maria R, Aguiar Marcos J, Silva José M C L, Ribeiro Marcia G, Fonseca Cristina, Amaral Daniela, Boson Wolfanga L, Resende Bruna A, De Marco Luiz
Abstract excerpt
CONTEXT: 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 resu...
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