Rapid response to leptin therapy in a FPLD patient with a novel PPARG missense variant
Familial partial lipodystrophy (FPLD) syndromes are rare heterogeneous disorders especially in women characterized by selective loss of adipose tissue, reduced leptin levels and severe metabolic abnormalities. Here we report a 34-year-old female with a novel heterozygotic c.485 thymine>guanine (T...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2021-09-01
|
| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0082.xml |