Article
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
Haematologica - 1 Sept 2007
Savoia Anna, Dufour Carlo, Locatelli Franco, Noris Patrizia, Ambaglio Chiara, Rosti Vittorio, Zecca Marco, Ferrari Simona, di Bari Filomena, Corcione Anna, Di Stazio Mariateresa, Seri Marco, Balduini Carlo L
Abstract excerpt
BACKGROUND AND OBJECTIVES: Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL). Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the...
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