Article
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.
Blood advances - 27 Mar 2018
Germeshausen Manuela, Ancliff Phil, Estrada Jaime, Metzler Markus, Ponstingl Eva, Rütschle Horst, Schwabe Dirk, Scott Richard H, Unal Sule, Wawer Angela, Zeller Bernward, Ballmaier Matthias
Abstract excerpt
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The...
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