Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference6 articles.
1. A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy;Al-Shali;J Clin Endocrinol Metab,2004
2. Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency;Campeau;J Lipid Res,2012
3. Lipodystrophies: disorders of adipose tissue biology;Garg;Biochim Biophys Acta,2009
4. Leptin therapy for partial lipodystrophy linked to a PPAR-gamma mutation;Guettier;Clin Endocrinol,2008
5. A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367);Hegele;Clin Genet,2006
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