The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
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.
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Citations
Cites
Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2331 · Cited by 741
Cited by
Vascular heterogeneity and specialization in development and disease
Potente, M., & Mäkinen, T. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.36 · Cited by 653
New developments in clinical aspects of lymphatic disease
Mortimer, P. S., & Rockson, S. G. (2014) · Journal of Clinical Investigation · doi:10.1172/jci71608 · Cited by 357
Self-citationGenetics of lymphatic anomalies
Brouillard, P., Boon, L., & Vikkula, M. (2014) · Journal of Clinical Investigation · doi:10.1172/jci71614 · Cited by 355
Metadata
- Authors
- Connell, F., Gordon, K., Brice, G., Keeley, V, Jeffery, S., Mortimer, P., Mansour, S., & Ostergaard, P.
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2013-06-27
- Volume
- 84
- Issue
- 4
- Pages
- 303-314
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1591893594
- Cited by
- 172
- References
- 1
- FWCI
- 6.48
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. https://app.cochat.ai/papers/10.1111/cge.12173
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- Connell, F., Gordon, K., Brice, G., Keeley, V, Jeffery, S., Mortimer, P., Mansour, S., & Ostergaard, P. (2013). The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. Clinical Genetics. https://doi.org/10.1111/cge.12173
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
