Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of two cases. J. Clin. Endocrinol. Metab. 14 (1954) 193-204
Seip M. Lipoatrophy and gigantism with associated endocrine manifestations: a new diencephalic syndrome?. Acta Paediatr. Scand. 48 (1959) 555-574
Garg A., Wilson R., Barnes R., Arioglu E., Zaidi Z., Gurakan F., Kocak N., O'Rahilly S., Taylor S.I., Patel S.B., and Bowcock A.M. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J. Clin. Endocrinol. Metab. 84 (1999) 3390-3394
Magré J., Delepine M., Khallouf E., Gedde-Dahl Jr. T., Van Maldergem L., Sobel E., Papp J., Meier M., Megarbane A., BSCL Working Group, Lathrop M., and Capeau J. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat. Genet. 28 (2001) 365-370
Ebihara K., Kusakabe T., Masuzaki H., Kobayashi N., Tanaka T., Chusho H., Miyanaga F., Miyazawa T., Hayashi T., Hosoda K., Ogawa Y., and Nakao K. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. J. Clin. Endocrinol. Metab. 89 5 (2004) 2360-2364
Jing J., Lingfeng C., Zhuhui Z., Shuixian S., Wieland K., Dijing Z., Rong Y., Ruoqian C., Lian C., Yi Y., and Feihong L. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. Eur. J. Endocrinol. 157 (2007) 783-787
Van Maldergem L., Magre J., Khallouf T.E., Gedde-Dahl Jr. T., Delepine M., Trygstad O., Seemanova E., Stephenson T., Albott C.S., Bonnici F., Panz V.R., Medina J.-L., et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J. Med. Genet. 39 (2002) 722-733
Figueiredo P., Costa A., Diamante R., Cunha C., Norton R., Lamounier J., and Leao E. Congenital generalized lipodystrophy. J. Pediatr. 80 (2004) 333-336
Bjornstad P.G., Semb B.K., Trygstad O., and Seip M. Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy. Eur. J. Pediatr. 144 4 (1985) 355-359
Rheuban K.S., Blizzard R.M., Parker M., Carter T., Wilson T., and Gutgesell H.P. Hypertrophic cardiomyopathy in total lipodystrophy. J. Pediatr. 109 (1986) 301-302
Bhayana V.M., Joubert S.I., Clarson C.L., Cao H., and Hegele R.A. Cardiomyopathy in congenital complete lipodystrophy. Clin. Genet. 61 (2002) 283-287
Geffner M.E., Santulli T.V., and Kaplan A.S. Hypertrophic cardiomyopathy in total lipodystrophy: insulin action in the face of insulin resistance?. J. Pediatr. 110 1 (1987) 161
Breitweser J.A., Meyer R.A., Sperling M.A., Tsang R.C., and Kaplan S. Cardiac septal hypertrophy in hyperinsulinemic infants. J. Pediatr. 96 (1980) 535-539
Bjornstad P.G., Foerster A., and Ihlen H. Cardiac findings in generalized lipodystrophy. Acta Paediatr. Suppl. 413 (1996) 39-43
Viegas R.F.M., Diniz R.V.Z., Viegas T.M.R.F., Lira E.B., and de Almeida D.R. Cardiac involvement in total generalized lipodystrophy. Arq. Bras. Cardiol. (2000) 301-302