| 1 | BSCL3, CAV1 |
| Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. | |
| Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J. | |
| J Clin Endocrinol Metab 93(4):1129-34. Epub 2008 Jan 22. 2008 | |
| 2 | AGPAT2, BSCL1, BSCL2, BSCL3, CAV1 |
| Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. | |
| Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A. | |
| Am J Med Genet A 146A(18):2318-26. 2008 | |