- Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes
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Gutierrez Alvarez A, Yachelevich N, Kohn B, Brar PC
- KMID: 2523836
- Ann Pediatr Endocrinol Metab.
- 2021 Dec;26(4):284-289.
- doi: 10.6065/apem.2142056.028
Severe hypertriglyceridemia (HTG) (>885 mg/dL) can be caused by familial partial lipodystrophy type 3 (FPLD3), an autosomal dominant disorder caused by loss of function of the peroxisome proliferator-activated receptor gamma... -
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