Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

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Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

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Berardinelli Seip congenital lipodystrophy presenting with neonatal diabetes mellitus due to a mutation in the AGPAT2 gene

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Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome

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AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.

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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

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25Hydroxy-vitamin D status in patients with berardinelli-seip syndrome (congenital generalized lipodystrophy)

Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy

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Misdiagnosis of Paget’s Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report

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