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...

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Detalles Bibliográficos
Autores principales: Ceccarini, Giovanni, Magno, Silvia, Pelosini, Caterina, Ferrari, Federica, Sessa, Maria Rita, Scabia, Gaia, Maffei, Margherita, Jéru, Isabelle, Lascols, Olivier, Vigouroux, Corinne, Santini, Ferruccio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034310/
https://www.ncbi.nlm.nih.gov/pubmed/32117065
http://dx.doi.org/10.3389/fendo.2020.00039

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