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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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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Mudgal, Mayuri, Reardon, Meghann, McGrann, Pamela, Niwattisaiwong, Soamsiri, Ruiz Esponda, Raul
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
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Acesso em linha: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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