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10.1182/bloodadvances.2018016501

http://scihub22266oqcxt.onion/10.1182/bloodadvances.2018016501
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C5873238!5873238!29540340
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suck abstract from ncbi


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pmid29540340      Blood+Adv 2018 ; 2 (6): 586-96
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  • MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia #MMPMID29540340
  • Germeshausen M; Ancliff P; Estrada J; Metzler M; Ponstingl E; R�tschle H; Schwabe D; Scott RH; Unal S; Wawer A; Zeller B; Ballmaier M
  • Blood Adv 2018[Mar]; 2 (6): 586-96 PMID29540340show ga
  • Germ line mutations in MECOM cause a heterogeneous bone marrow failure syndrome with congenital hypomegakaryocytic thrombocytopenia.MECOM-associated syndrome includes various organ malformations with variable penetrance, including radioulnar synostosis.



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