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Article

Congenital generalized lipodystrophy in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jan 2019

Hsu Rai-Hseng, Lin Wei-De, Chao Mei-Chyn, Hsiao Hui-Pin, Wong Siew-Lee, Chiu Pao-Chin, Chu Shao-Yin, Ke Yu-Yuan, Lau Beng-Huat, Chien Yin-Hsiu, Hwu Wuh-Liang, Tsai Fuu-Jen, Wang Chung-Hsing, Lee Ni-Chung

Abstract excerpt

BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. METHODS: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and...

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Identifiers

PMID: 29478747
DOI: 10.1016/j.jfma.2018.02.003

Genes

BSCL2

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