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congenital amegakaryocytic thrombocytopenia
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Journal Articles

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

Clinical Trials & Observations
Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H. Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Journal: Blood Advances
Blood Adv (2018) 2 (6): 586–596.
https://doi.org/10.1182/bloodadvances.2018016501
Published: 2018
Includes: Supplemental data
Journal Articles

Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia

Cédric Cleyrat, Romain Girard, Eun H. Choi, Éric Jeziorski, Thierry Lavabre-Bertrand, Sylvie Hermouet, Serge Carillo, Bridget S. Wilson
Journal: Blood Advances
Blood Adv (2017) 1 (21): 1815–1826.
https://doi.org/10.1182/bloodadvances.2016002915
Published: 2017
Includes: Supplemental data