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Candidate gene analysis in primary lymphedema.

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Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261, USA.

Background: Primary lymphedema, the accumulation of protein-rich fluid in the interstitial space, is the clinical manifestation of mutations involved in lymphatic development and function. Mutations in three genes, VEGFR3, FOXC2, and SOX18, cause primary lymphedema. However, mutations in these three genes only account for a fraction of primary lymphedema.

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