Article
Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
International journal of molecular sciences - 27 Jul 2023
Kountouri Aikaterini, Korakas Emmanouil, Maratou Eirini, Ikonomidis Ignatios, Balampanis Konstantinos, Liatis Stavros, Tentolouris Nikolaos, Toulas Panagiotis, Kousathana Foteini, Giatzakis Christophoros, Dimitriadis George D, Lambadiari Vaia
Abstract excerpt
Familial partial lipodystrophy (FPLD) is a rare syndrome in which a patient's phenotype is not merely dependent on the specific genetic mutation, but it is also defined by a combination of other demographic, environmental and genetic factors. In this prospective observational study in a Greek referral center, we enrolled 39 patients who fulfilled the clinical criteria of FPLD. A genetic analysis was conducted,...
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