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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Detalles Bibliográficos
Autores principales: Tavian, Daniela, Missaglia, Sara, Maltese, Paolo E., Michelini, Sandro, Fiorentino, Alessandro, Ricci, Maurizio, Serrani, Roberta, Walter, Michael A., Bertelli, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2016
Materias:
Research Paper: Pathology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5342337/
https://www.ncbi.nlm.nih.gov/pubmed/27276711
http://dx.doi.org/10.18632/oncotarget.9797

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