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LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4

Known as: FPLD4, LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS 
National Institutes of Health

Related topics

Related topics

7 relations
Acanthosis NigricansAutosomal dominant inheritanceFatty degenerationHypertensive disease

Papers overview

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Review
2019
Review
2019
Recent developments in lipodystrophy.
PURPOSE OF REVIEW Lipodystrophy syndromes have an estimated prevalence of 1.3-4.7 cases per million and as with other rare… 
2019
2019
SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
Abstract Introduction: Type 4 familial partial lipodystrophic syndrome (FPLD4) is an autosomal dominant disease due to frameshift… 
2019
2019
A Novel Recurrent Heterozygous Plin1 Mutation in Three Russian Patients with Partial Lipodystrophy, Dyslipidemia and Insulin Resistance
Background. The PLIN1 gene encodes perilipin a lipid droplet coat protein expressed in adipocytes where it inhibits basal and… 
2018
2018
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy
Abstract Context Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic… 
2017
2017
Clinical Utility Gene Card for: Familial partial lipodystrophy
1. DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) There are several subclasses of familial partial lipodystrophy… 
2015
2015
A functional variant in the exon 5 of PLIN1 reduces risk of central obesity by possible regulation of lipid storage.
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