PLIN1-related familial partial lipodystrophy
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Sign InDescription
Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
8