Article
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.
Oncotarget - 23 Aug 2016
Tavian Daniela, Missaglia Sara, Maltese Paolo E, Michelini Sandro, Fiorentino Alessandro, Ricci Maurizio, Serrani Roberta, Walter Michael A, Bertelli Matteo
Abstract excerpt
Dominant mutations in the FOXC2 gene cause a form of lymphedema primarily of the limbs that usually develops at or after puberty. In 90-95% of patients, lymphedema is accompanied by distichiasis. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes. We previously described six unrelated families...
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