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Novel Heterozygous LMNA Variants Causing Familial Partial Lipodystrophy, Dunnigan Variety
Familial partial lipodystrophy (FPLD) is a rare, mostly autosomal dominant disorder characterized by selective loss of subcutaneous fat from the extremities. Patients with FPLD are predisposed to insulin resistance, dyslipidemia, diabetes mellitus, cardiac abnormalities (coronary heart disease [CHD]...
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| 出版年: | J Endocr Soc |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2021
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8089313/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.068 |
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