Article
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Journal of medical genetics - 1 Oct 2002
Van Maldergem L, Magré J, Khallouf T E, Gedde-Dahl T, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott C S, Bonnici F, Panz V R, Medina J L, Bogalho P, Huet F, Savasta S, Verloes A, Robert J J, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn C R, Silveira E L, D'Abronzo F H, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S
Abstract excerpt
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for...
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