Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation

[摘要] SummaryProteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old fe

[学科分类] 内分泌与代谢学