SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
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DOI: 10.1210/js.2019-sun-037
Abstract: Abstract Introduction: Type 4 familial partial lipodystrophic syndrome (FPLD4) is an autosomal dominant disease due to frameshift variants of PLIN1 gene. This gene encodes perilipin 1, a protein playing a key role in the structure… read more here.
Keywords: diagnosis; type familial; partial lipodystrophic; lipodystrophic syndrome ... See more keywords