A case of congenital systemic lipodystrophy with exfoliated xanthoma caused by AGPAT2 gene mutation

A case of congenital systemic lipodystrophy with exfoliated xanthoma caused by AGPAT2 gene mutation

Objective To analyze the clinical characteristics and genotype of a patient with congenital systemic lipodystrophy (CGL) type 1 associated with exudative xanthoma caused by AGPAT2 gene mutation, and to provide evidence for clinical and genetic diagnosis of the disease.Methods Clinical data of the pa...

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Bibliographic Details
Main Author: LUO Yunyun, ZHANG Liyuan, WANG Xinyi, LIU He, DU Hanze, PAN Hui
Format: Article
Language:zho
Published: Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2023-12-01
Series:Jichu yixue yu linchuang
Subjects:
congenital systemic lipodystrophy|agpat2 gene|whole exon sequencing|eruptive xanthoma
Online Access:http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2023-43-12-1852.pdf

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http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2023-43-12-1852.pdf

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