MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

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...

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Detalhes bibliográficos
Publicado no:Blood Adv
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2018
Assuntos:
Hematopoiesis and Stem Cells
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5873238/
https://ncbi.nlm.nih.gov/pubmed/29540340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2018016501
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