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Congenital thrombocytopenia
- ... Group. Mutation in GNE is associated with severe congenital thrombocytopenia. Blood. 2018 Oct 25;132(17):1855-1858. ...
- ... the MPL gene cause a rare condition called congenital amegakaryocytic thrombocytopenia (CAMT). This condition begins in infancy and is ... K. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of ...
- ... platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica. 2013 Jun;98( ...
- ... same genetic cause, Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia are sometimes collectively referred to as WAS- ...
- ... to break down earlier than usual, leading to thrombocytopenia and bleeding problems in people ... syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. ...