Endocrine Abstracts

Background: Familial partial lipodystrophy (FPLD) is a rare syndrome in which a patient’s phenotype is not dependent merely on the specific genetic mutation, but also on a combination of other demographic, environmental and genetic factors. In this report, we present a large cohort of novel mutation in FPLD patients from a large referral center in Greece and we investigate the possible relationship between the genetic variations detected and their phenotype and the effect...