Article
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.
British journal of haematology - 1 Dec 2009
De Filippi Paola, Zecca Marco, Lisini Daniela, Rosti Vittorio, Cagioni Claudia, Carlo-Stella Carmelo, Radi Orietta, Veggiotti Pierangelo, Mastronuzzi Angela, Acquaviva Antonio, D'Ambrosio Alfonso, Locatelli Franco, Danesino Cesare
Abstract excerpt
We report the case of a child with clinical and haematological features indicative of juvenile myelomonocytic leukaemia (JMML). The patient showed dysmorphic features: high forehead, bilateral epicanthal folds, long eyebrows, low nasal bridge and slightly low-set ears. A 38G>A (G13D) mutation in exon 1 of the NRAS gene was first demonstrated on peripheral blood cells, and then confirmed on granulocyte-macrophage...
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