期刊
CLINICAL GENETICS
卷 84, 期 4, 页码 303-314出版社
WILEY
DOI: 10.1111/cge.12173
关键词
lymphoedema; generalized lymphatic dysplasia; phenotyping; FOXC2; GATA2; GJC2; KIF11; VEGFC; FLT4; VEGFR3
资金
- British Heart Foundation [FS/11/40/28739, PG/10/58/28477]
- British Heart Foundation [PG/10/58/28477, FS/11/40/28739] Funding Source: researchfish
Historically, 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 article 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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