FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function

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...

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Dades bibliogràfiques
Publicat a:Oncotarget
Autors principals: Tavian, Daniela, Missaglia, Sara, Maltese, Paolo E., Michelini, Sandro, Fiorentino, Alessandro, Ricci, Maurizio, Serrani, Roberta, Walter, Michael A., Bertelli, Matteo
Format: Artigo
Idioma:Inglês
Publicat: Impact Journals LLC 2016
Matèries:
Research Paper: Pathology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5342337/
https://ncbi.nlm.nih.gov/pubmed/27276711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.9797
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