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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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Detalles Bibliográficos
Publicado en:J Endocr Soc
Autores principales: Mudgal, Mayuri, Reardon, Meghann, McGrann, Pamela, Niwattisaiwong, Soamsiri, Ruiz Esponda, Raul
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2019
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Acceso en línea: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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