Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Frontiers In Endocrinology
Ceccarini, Giovanni G; Magno, Silvia S; Pelosini, Caterina C; Ferrari, Federica F; Sessa, Maria Rita MR; Scabia, Gaia G; Maffei, Margherita M; Jéru, Isabelle I; Lascols, Olivier O; Vigouroux, Corinne C; Santini, Ferruccio F