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Article

Recessive primary congenital lymphoedema caused by a <i>VEGFR3</i> mutation

15 Mar 2009

Abstract excerpt

BACKGROUND: Heterozygous mutations in VEGFR3 have been identified in some familial cases with dominantly inherited primary congenital lymphoedema, known as Nonne-Milroy disease. Recessive cases of primary lymphoedema with a genetic cause are not known, except for two families with syndromic hypotrichosis-lymphoedema-telangiectasia, with a SOX18 mutation. METHODS AND RESULTS: In this study, we present the first...

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Identifiers

PMID: 19289394
DOI: 10.1136/jmg.2008.064469

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