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Results 1 - 8 of 8 for Thrombocytopenia 3
  1. ... mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat. 2006 Mar;27(3):296. doi: 10.1002/humu.9415. Citation on ...
  2. ... BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 INTEGRIN, BETA-3; ITGB3 ... L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. Br J Haematol. 2013 Feb;160( ...
  3. ... 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 ...
  4. ... found to have a lower number of platelets (thrombocytopenia), a condition called GNE-related thrombocytopenia. When variants in the GNE gene reduce the ...
  5. ... 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 ...
  6. ... red blood cells (autoimmune hemolytic anemia), platelets (autoimmune thrombocytopenia), or tissues in the digestive tract (autoimmune enteropathy). ... Response Factor signal transducer and activator of transcription 3 (acute-phase response factor) STAT3_HUMAN Tests of ...
  7. ... 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. ...
  8. ... 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. ...