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Article

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.

Journal of clinical research in pediatric endocrinology - 1 Mar 2017

Su Xueying, Lin Ruizhu, Huang Yonglan, Sheng Huiying, Li Xiaofei, Ting Tzer Hwu, Liu Li, Li Xiuzhen

Abstract excerpt

OBJECTIVE: To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations. METHODS: Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon-intron junction regions of...

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Source

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Identifiers

PMID: 27612026
DOI: 10.4274/jcrpe.3556
PMCID: PMC5363165

Genes

BSCL2
AGPAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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