Article

The Novel Loss-of-function Arg212Trp Mutation in PPARG Causes Familial Partial Lipodystrophy Type 3

2024-05-09

Abstract excerpt

<title>Abstract</title> <p>Background Familial partial lipodystrophy type 3 (FPLD3) is a rare genetic disorder caused by mutations in peroxisome activator receptor gamma (<italic>PPARG</italic>). Patients with familial partial lipodystrophy often have abnormal fat distribution and severe metabolic abnormalities. In this study, we identified a familial genetic defect in PPARG in a Chinese family and functionally...

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Literature Corpus work: 9e897f9c-edef-58df-9e8b-8ca180140b04
DOI: 10.21203/rs.3.rs-4296124/v1

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