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A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.

Yi chuan = Hereditas - 20 Oct 2022

Ye Jing-Ya, Huang Ai-Jie, Fu Zhen-Zhen, Gong Ying-Yun, Yang Hong-Yuan, Zhou Hong-Wen

Abstract excerpt

Congenital generalized lipodystrophy (CGL) is an extremely rare genetic disease mainly characterized by absence of whole-body adipose tissue and metabolic dysfunctions such as insulin resistance, diabetes mellitus, hypertriglyceridemia, hepatic steatosis, and acanthosis nigricans. In this study, we reported a novel case of a young woman patient with CGL. The patient came to the hospital for early-onset...

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PMID: 36384728
DOI: 10.16288/j.yczz.22-222

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