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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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
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020-02-01
Colecção:Frontiers in Endocrinology
Assuntos:
lipodystrophy
Berardinelli-Seip syndrome
BSCL1
AGPAT2
leptin
Acesso em linha:https://www.frontiersin.org/article/10.3389/fendo.2020.00039/full
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