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Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency
Familial partial lipodystrophy (FPLD) is characterized by abnormal fat distribution and a metabolic syndrome with hypertriglyceridemia. We identified a family with a severe form of FPLD3 with never-reported clinical features and a novel mutation affecting the DNA binding domain of PPARγ (E157D). Apa...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society for Biochemistry and Molecular Biology
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3413236/ https://ncbi.nlm.nih.gov/pubmed/22750678 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P025437 |
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