Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial partial lipodystrophy type 3 is an autosomal dominant disorder caused by mutations of the PPARG gene.
Partial lipodystrophy
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Familial partial lipodystrophy type 2
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Familial partial lipodystrophy type 3
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PPARG
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Familial partial lipodystrophy type 4
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Familial partial lipodystrophy type 5
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| 1. |
Agarwal AK et al. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. 
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| 2. |
Hegele RA et al. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
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| 3. |
Savage DB et al. (2003) Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.
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| 4. |
Barroso I et al. () Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
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| 5. |
OMIM.ORG article Omim 604367
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| 6. |
Orphanet article Orphanet ID 79083
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