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

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

Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. BSCL type 1 (BSCL1) is caused by mutations in AGPAT2, encoding 1-acylglycerol-3phosphate-O-acyltransferase β (recently renamed lysophosp...

Full description

Bibliographic Details
Main Authors: Giovanni Ceccarini, Silvia Magno, Caterina Pelosini, Federica Ferrari, Maria Rita Sessa, Gaia Scabia, Margherita Maffei, Isabelle Jéru, Olivier Lascols, Corinne Vigouroux, Ferruccio Santini
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Endocrinology
Subjects:
lipodystrophy
Berardinelli-Seip syndrome
BSCL1
AGPAT2
leptin
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2020.00039/full

Internet

https://www.frontiersin.org/article/10.3389/fendo.2020.00039/full

Similar Items