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Results 1 - 10 of 11 for Thrombocytopenia
  1. ... gene have been found to cause X-linked thrombocytopenia, a blood disorder characterized by a decrease in ... the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect the development of ...
  2. ... found to have a lower number of platelets (thrombocytopenia), a condition called GNE-related thrombocytopenia. When variants in the GNE gene reduce the ...
  3. ... have been found to cause dyserythropoietic anemia and thrombocytopenia. Most of these mutations change a single protein ... cells (anemia) and platelets involved in blood clotting (thrombocytopenia), which are characteristic features of dyserythropoietic anemia and ...
  4. ... gene cause a rare condition called congenital amegakaryocytic thrombocytopenia (CAMT). This condition begins in infancy and is ... by low numbers of megakaryocytes (megakaryocytopenia) and platelets (thrombocytopenia). CAMT can lead to an impairment of bone ...
  5. ... problems, including a severely reduced amount of platelets (thrombocytopenia), early-onset renal disease, and hearing loss in ... lack of functional myosin-9, accounting for the thrombocytopenia seen in all individuals with MYH9-related disorder. ...
  6. ... a low number of blood cells called platelets (thrombocytopenia) and consequent bleeding problems, a muscle disorder called ... to break down earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. ...
  7. ... not needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized ...
  8. ... phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica. 2013 Jun;98( ...
  9. ... L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. Br J Haematol. 2013 Feb;160( ...
  10. ... red blood cells (autoimmune hemolytic anemia), platelets (autoimmune thrombocytopenia), or tissues in the digestive tract (autoimmune enteropathy). ...
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