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LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
Known as:
FPLD4
, LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
National Institutes of Health
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Related topics
Related topics
7 relations
Acanthosis Nigricans
Autosomal dominant inheritance
Fatty degeneration
Hypertensive disease
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2019
2019
SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
M. Vantyghem
,
I. Jéru
,
+7 authors
C. Vigouroux
Journal of the Endocrine Society
2019
Corpus ID: 188503222
Abstract Introduction: Type 4 familial partial lipodystrophic syndrome (FPLD4) is an autosomal dominant disease due to frameshift…
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2019
2019
A Novel Recurrent Heterozygous Plin1 Mutation in Three Russian Patients with Partial Lipodystrophy, Dyslipidemia and Insulin Resistance
Y. Tikhonovich
,
E. Sorkina
,
+5 authors
A. Tiulpakov
2019
Corpus ID: 208444679
Background. The PLIN1 gene encodes perilipin a lipid droplet coat protein expressed in adipocytes where it inhibits basal and…
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