Associated Papers
[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].
Wang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
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
Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.
Pelosini C et al.
Acta Diabetologica, 2011
[Congenital generalized lipodystrophy: a case report with neurological involvement].
Ben Turkia H et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2009
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