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Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation
Proteinuric 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 female patient presented with impaired glucose toleran...
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| 出版年: | Endocrinol Diabetes Metab Case Rep |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Bioscientifica Ltd
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5467650/ https://ncbi.nlm.nih.gov/pubmed/28620495 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0049 |
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