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Results 1 - 10 of 14 for Congenital thrombocytopenia
  1. GNE gene 
    ... Group. Mutation in GNE is associated with severe congenital thrombocytopenia. Blood. 2018 Oct 25;132(17):1855-1858. ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  2. MPL gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/mpl - Genetics
  3. NBEAL2 gene 
    ... platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica. 2013 Jun;98( ...
    https://medlineplus.gov/genetics/gene/nbeal2 - Genetics
  4. Gray platelet syndrome 
    ... platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica. 2013 Jun;98( ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
  5. Wiskott-Aldrich syndrome 
    ... disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms ...
    https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome - Genetics
  6. WAS gene 
    ... same genetic cause, Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia are sometimes collectively referred to as WAS- ...
    https://medlineplus.gov/genetics/gene/was - Genetics
  7. Dyserythropoietic anemia and thrombocytopenia 
    ... 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 ...
    https://medlineplus.gov/...rythropoietic-anemia-and-thrombocytopenia - Genetics
  8. Thrombotic thrombocytopenic purpura 
    ... inherited. Chronic relapsing thrombotic thrombocytopenic purpura Familial thrombotic ... purpura Immune-mediated thrombotic thrombocytopenic purpura ...
    https://medlineplus.gov/.../thrombotic-thrombocytopenic-purpura - Genetics
  9. Aicardi-Goutières syndrome 
    ... platelets that are needed for normal blood clotting (thrombocytopenia). They may ... at birth (congenital), no actual infection is found in these infants. ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  10. Shwachman-Diamond syndrome 
    ... or a reduction in the amount of platelets (thrombocytopenia), which can result in ... Congenital lipomatosis of pancreas Metaphyseal chondrodysplasia, Shwachman type SDS ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
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