Associated Papers
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G et al.
Frontiers in Endocrinology, 2020
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
30319454 (PubMed )
Supplement: Data_Sheet_1.pdf
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
Garg A
The Journal of Clinical Endocrinology and Metabolism, 2011
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.
Simha V et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Agarwal AK et al.
Nature Genetics, 2002
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