Article
Congenital amegakaryocytic thrombocytopenia.
Pediatric blood & cancer - 1 Aug 2011
Geddis Amy E
Abstract excerpt
Congenital amegakaryocytic thrombocytopenia (CAMT) is clinically characterized by thrombocytopenia presenting at birth in a child without congenital or skeletal malformations, reduced or absent bone marrow megakaryocytes, and eventual progression to bone marrow failure. Molecular studies in most cases confirm homozygous or compound heterozygous mutations in the thrombopoietin receptor c-Mpl. In addition to the...
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