Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial partial lipodystrophy type 4

Familial partial lipodystrophy type 4 is an autosomal dominant disorder caused by mutations of the PLIN1 gene.

Systematic

Partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type 3
Familial partial lipodystrophy type 4
PLIN1
Familial partial lipodystrophy type 5

References:

1.

Gandotra S et al. (2011) Perilipin deficiency and autosomal dominant partial lipodystrophy.

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2.

OMIM.ORG article

Omim 613877 [^]
Update: April 29, 2019