Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3

Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by the selective loss of adipose tissue. Its estimated prevalence is as low as 1 in 1 million. The deficiency of metabolically active adipose tissue is closely linked with a wide range of metabolic complications, such as...

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Detalles Bibliográficos
Autores principales: Rutkowska, Lena, Salachna, Dominik, Lewandowski, Krzysztof, Lewiński, Andrzej, Gach, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139680/
https://www.ncbi.nlm.nih.gov/pubmed/35626278
http://dx.doi.org/10.3390/diagnostics12051122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139680/
https://www.ncbi.nlm.nih.gov/pubmed/35626278
http://dx.doi.org/10.3390/diagnostics12051122

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