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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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Detaylı Bibliyografya
Yayımlandı:J Endocr Soc
Asıl Yazarlar: Mudgal, Mayuri, Reardon, Meghann, McGrann, Pamela, Niwattisaiwong, Soamsiri, Ruiz Esponda, Raul
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Endocrine Society 2019
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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