Article
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
Blood - 15 Sept 2005
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
Abstract excerpt
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 with NS (NS/MPD). We identified PTPN11 mutations in blood or bone marrow specimens from 77 newly reported patients with...
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