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Article

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

The Journal of clinical endocrinology and metabolism - 1 Oct 2003

Agarwal Anil K, Simha Vinaya, Oral Elif Arioglu, Moran Stephanie A, Gorden Phillip, O'Rahilly Stephen, Zaidi Zohra, Gurakan Figen, Arslanian Silva A, Klar Aharon, Ricker Alyne, White Neil H, Bindl Lutz, Herbst Karen, Kennel Kurt, Patel Shailesh B, Al-Gazali Lihadh, Garg Abhimanyu

Abstract excerpt

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Recently, mutations in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) genes were reported in pedigrees linked to chromosomes 9q34 and 11q13, respectively. There are limited data regarding phenotypic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14557463
DOI: 10.1210/jc.2003-030855

Genes

BSCL2
AGPAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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