Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

c-CBL (CBL) encodes a member of the Cbl family of proteins, which functions as an E3 ubiquitin ligase. We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by constitutional anomalies that include impaired growth, developmental delay, c...

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Published in:Nat Genet
Main Authors: Niemeyer, Charlotte M., Kang, Michelle W., Shin, Danielle H., Furlan, Ingrid, Erlacher, Miriam, Bunin, Nancy J, Bunda, Severa, Finklestein, Jerry Z., Gorr, Thomas A., Mehta, Parinda, Schmid, Irene, Kropshofer, Gabriele, Corbacioglu, Selim, Lang, Peter J, Klein, Christoph, Schlegel, Paul-Gerhard, Heinzmann, Andrea, Schneider, Michaela, Starý, Jan, van den Heuvel-Eibrink, Marry M., Hasle, Henrik, Locatelli, Franco, Sakai, Debbie, Archambeault, Sophie, Chen, Leslie, Russell, Ryan C., Sybingco, Stephanie S., Ohh, Michael, Braun, Benjamin S., Flotho, Christian, Loh, Mignon L.
Format: Artigo
Language:Inglês
Published: 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297285/
https://ncbi.nlm.nih.gov/pubmed/20694012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.641
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