Published in
Wiley, European Journal of Haematology, 4(89), p. 345-349, 2012
DOI: 10.1111/j.1600-0609.2012.01833.x
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Clonal Chromosome Anomalies Affecting Fli1 Mimic Inherited Thrombocytopenia Of The Paris-Trousseau Type.
Journal article published in 2012 by
Patrizia Noris,
Roberto Valli,
Alessandro Pecci 
,
Cristina Marletta,
Rosangela Invernizzi,
Lydia Mare,
Carlo L. Balduini,
Emanuela Maserati
,
Cristina Marletta,
Rosangela Invernizzi,
Lydia Mare,
Carlo L. Balduini,
Emanuela Maserati
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Abstract
The thrombocytopenia of the Paris-Trousseau (TCPT) typeis a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), abnormal giant alpha-granules in platelets and dysmegakaryopoiesis: it derives from a constitutional deletion of chromosome 11 leading to the loss of FLI1, a transcription factor involved in megakaryocyte differentiation and maturation.