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Article

Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient.

Frontiers in endocrinology - 1 Jan 2022

Chen Xi, Ma Zhiqiang, Chen Peng, Song Xiuli, Li Weihua, Yu Xuefeng, Xie Junhui

Abstract excerpt

Purpose: Familial partial lipodystrophy type 3 (FPLD3) is an autosomal dominant disease. Patients typically present with loss of adipose tissue and metabolic complications. Here, we reported a Chinese FPLD3 patient with a novel PPARG gene mutation. Methods: A 16-year-old female patient and her relatives were assessed by detailed clinical and biochemical examinations. Sequencing was performed by using the...

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Identifiers

PMID: 35422762
DOI: 10.3389/fendo.2022.830708
PMCID: PMC9001891

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