Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
L Van Maldergem, J Magré, T E Khallouf, T Gedde-Dahl, M Delépine, O Trygstad, E Seemanova, T Stephenson, C S Albott, F Bonnici, V R Panz, J-L Medina, P Bogalho, F Huet, S Savasta, A Verloes, J-J Robert, H Loret, M de Kerdanet, N Tubiana-Rufi, A Mégarbané, J Maassen, M Polak, D Lacombe, C R Kahn, E L Silveira, F H D’Abronzo, F Grigorescu, M Lathrop, J Capeau, S O’Rahilly
Journal of Medical Genetics Oct 2002, 39 (10) 722-733; DOI: 10.1136/jmg.39.10.722