Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes
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 (PPARG), characterized by abnormal distribution of fat and metabolic der...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2021-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |