학술논문
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
Document Type
Academic Journal
Author
Source
Clinical Genetics. Oct 01, 2013 84(4):303-314
Subject
Language
English
ISSN
0009-9163
Abstract
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.