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Conflict of interestAll authors declare no conflict of interest.
AcknowledgementsWe would like to acknowledge the members of the Lymphoedema Research Consortium, UK. We extend our thanks to the patients and their families and the British Heart Foundation for funding the work of KG (FS/11/40/28739) and PO (PG/10/58/28477).
CGE-00117-2013Connell et al 2
AbstractHistorically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010 we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This paper reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.
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