Associated Papers
Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.
da Silva MA et al.
Diabetology & Metabolic Syndrome, 2024
Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.
Soares RMV et al.
Frontiers in Endocrinology, 2024
Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Gosseaume C et al.
European Journal of Endocrinology, 2023
Recurrent activating mutations of PPARγ associated with luminal bladder tumors.
Rochel N et al.
Nature Communications, 2019
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
Dyment DA et al.
European Journal of Medical Genetics, 2014
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