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
Autores principales: Mudgal, Mayuri, Reardon, Meghann, McGrann, Pamela, Niwattisaiwong, Soamsiri, Ruiz Esponda, Raul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Cardiovascular Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552779/
http://dx.doi.org/10.1210/js.2019-SUN-LB012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552779/
http://dx.doi.org/10.1210/js.2019-SUN-LB012

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