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PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy
CONTEXT: Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistanc...
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| 出版年: | J Clin Endocrinol Metab |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Endocrine Society
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6126890/ https://ncbi.nlm.nih.gov/pubmed/30020498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-02662 |
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