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SUN-LB012 Familial Partial Lipodystrophy Type 3: New Variant to the PPARG Gene Mutation
Objective: Familial partial lipodystrophy (FPLD) syndromes are rare and characterized by variable loss of adipose tissue in some areas of the body with excess deposition of fat in other areas, and complex metabolic derangements. We present a patient who had a new pathogenic variant identified in the...
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| Yayımlandı: | J Endocr Soc |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Endocrine Society
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6552779/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-LB012 |
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