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Thrombocytopenia 4
- ... L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. Br J Haematol. 2013 Feb;160(4):521-9. doi: 10.1111/bjh.12160. Epub ...
- ... 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 ...
- ... 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 ...
- ... found to have a lower number of platelets (thrombocytopenia), a condition called GNE-related thrombocytopenia. When variants in the GNE gene reduce the ...
- ... 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. ...
- ... 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. ...
- ... not needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized ... TAR syndrome. Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng. ...
- ... red blood cells (autoimmune hemolytic anemia), platelets (autoimmune thrombocytopenia), or tissues in the digestive tract (autoimmune enteropathy). ... mutations in STAT3. Blood. 2015 Jan 22;125(4):639-48. doi: 10.1182/blood-2014-04- ...
- ... phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica. 2013 Jun;98( ... Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883. Citation on PubMed ...
- ... a reduced number of platelets in the blood (thrombocytopenia) and mild bleeding abnormalities. In contrast to mutations ... V complex. J Thromb Haemost. 2013 Apr;11(4):605-14. doi: 10.1111/jth.12144. Citation ...