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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297285/
https://www.ncbi.nlm.nih.gov/pubmed/20694012
http://dx.doi.org/10.1038/ng.641

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297285/
https://www.ncbi.nlm.nih.gov/pubmed/20694012
http://dx.doi.org/10.1038/ng.641

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