Article
Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways.
International journal of molecular sciences - 3 Jul 2022
Bonetti Gabriele, Paolacci Stefano, Samaja Michele, Maltese Paolo Enrico, Michelini Sandro, Michelini Serena, Michelini Silvia, Ricci Maurizio, Cestari Marina, Dautaj Astrit, Medori Maria Chiara, Bertelli Matteo
Abstract excerpt
Lymphedema is a chronic inflammatory disorder caused by ineffective fluid uptake by the lymphatic system, with effects mainly on the lower limbs. Lymphedema is either primary, when caused by genetic mutations, or secondary, when it follows injury, infection, or surgery. In this study, we aim to assess to what extent the current genetic tests detect genetic variants of lymphedema, and to identify the major...
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