Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel
AGPAT2
BSCL1
Berardinelli-Seip syndrome
leptin
lipodystrophy
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2020
2020
Historique:
received:
21
10
2019
accepted:
21
01
2020
entrez:
3
3
2020
pubmed:
3
3
2020
medline:
3
3
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 32117065
doi: 10.3389/fendo.2020.00039
pmc: PMC7034310
doi:
Substances chimiques
Codon, Nonsense
0
Acyltransferases
EC 2.3.-
2-acylglycerophosphate acyltransferase
EC 2.3.1.52
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
39Informations de copyright
Copyright © 2020 Ceccarini, Magno, Pelosini, Ferrari, Sessa, Scabia, Maffei, Jéru, Lascols, Vigouroux and Santini.
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