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Article

Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.

Gene - 30 Dec 2017

Chen Ruimin, Yuan Xin, Wang Jian, Zhang Ying

Abstract excerpt

BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular...

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Source

Identifiers

PMID: 28916377
DOI: 10.1016/j.gene.2017.09.023

Genes

BSCL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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