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hrp0098p2-102 | Fat, Metabolism and Obesity | ESPE2024

Diagnosis of monogenic obesity: the uncertainty due to the occurrence of VUS has decreased over time. A single center experience of variant follow-up.

Morandi Anita , Fornari Elena , Corradi Massimiliano , Olivieri Francesca , Piona Claudia , Maguolo Alice , Panzeri Carola , Emiliani Federica , Cavarzere Paolo , Maffeis Claudio

Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We aim ed to describe our real-life approach of variant re-assessment over time for managing classification uncertainty in the diagnosis of monogenic obesity, and to infer if population data updates and novel functional evidence are decreasing inconclusive variants.Methods: We tested 101 children/adolescents (...

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Diagnosis of monogenic obesity: the uncertainty due to the occurrence of VUS has decreased over time. A single center experience of variant follow-up.

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