Clinical and genetic study of Italian families with primary lymphedema

Sandro Michelini, Matteo Bertelli, Marco Cardone, Stefano Cecchin, Marina Cestari, Domenico Corda, Alfredo Leone, Antonio Mander, Maurizio Ricci, C. Campisi, F. Boccardo, A. Fiorentino, F. Cappellino, Elisabetta Rigoni, Anna Persi

Research output: Contribution to journalArticlepeer-review

Abstract

Primary lymphedemas are often determined by the mutation of a gene that prevents the receptor of the cell membrane to recognize the growth factors normally circulating. The authors studied the possible genetic mutations present in patients suffering from primary lymphedema, suitably selected from the clinical point of view. Nine genetic mutations have been identified on the genes VEGFR3 and FOXC2. Some of them had never been described in literature. The study is in progress and aims to study the entire families into account that the disease is autosomal dominant with incomplete penetrance.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalEuropean Journal of Lymphology and Related Problems
Volume23
Issue number65
Publication statusPublished - 2012

Keywords

  • Genetics
  • Primary lymphedema

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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