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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2005
Assuntos:
Neoplasia
Acesso em linha: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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