Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial partial lipodystrophy type 5 is an autosomal recessive disorder caused by mutations of the CIDEC 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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Familial partial lipodystrophy type 4
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Familial partial lipodystrophy type 5
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CIDEC
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| 1. |
Nishino N et al. (2008) FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. 
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| 2. |
Rubio-Cabezas O et al. (2009) Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
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| 3. |
OMIM.ORG article Omim 615238
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