Article
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Nature genetics - 1 Aug 2001
Magré J, Delépine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo F H, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert J J, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen J A, Trygstad O, Bogalho P, Freitas P, Medina J L, Bonnicci F, Joffe B I, Loyson G, Panz V R, Raal F J, O'Rahilly S, Stephenson T, Kahn C R, Lathrop M, Capeau J
Abstract excerpt
Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and...
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