The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JMML). Myeloproliferative disorders (MPDs), either transient or more fulminant forms, can also occur in infants wit...

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Main Authors: Kratz, Christian P., Niemeyer, Charlotte M., Castleberry, Robert P., Cetin, Mualla, Bergsträsser, Eva, Emanuel, Peter D., Hasle, Henrik, Kardos, Gabriela, Klein, Cornelia, Kojima, Seiji, Stary, Jan, Trebo, Monika, Zecca, Marco, Gelb, Bruce D., Tartaglia, Marco, Loh, Mignon L.
格式: Artigo
語言:Inglês
出版: American Society of Hematology 2005
主題:
Neoplasia
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895140/
https://ncbi.nlm.nih.gov/pubmed/15928039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-02-0531
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