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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( ...
- ... platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica. 2013 Jun;98( ...
- ... disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms ...
- ... same genetic cause, Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia are sometimes collectively referred to as WAS- ...
- ... affected individuals.Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that ...
- ... inherited. Chronic relapsing thrombotic thrombocytopenic purpura Familial thrombotic ... purpura Immune-mediated thrombotic thrombocytopenic purpura ...
- ... platelets that are needed for normal blood clotting (thrombocytopenia). They may ... at birth (congenital), no actual infection is found in these infants. ...
- ... or a reduction in the amount of platelets (thrombocytopenia), which can result in ... Congenital lipomatosis of pancreas Metaphyseal chondrodysplasia, Shwachman type SDS ...