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Thrombocytopenia 9
- ... most affected by a lack of functional myosin-9, accounting for the thrombocytopenia seen in all individuals with MYH9-related disorder. More About This Health Condition MedlinePlus Genetics provides ... MYH9_HUMAN myosin heavy chain, non-muscle IIa myosin, heavy chain 9, non-muscle myosin-9 NMHC-II-A NMMHC ...
- ... 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 2012 Dec ...
- ... 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 ...
- ... 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. ...
- ... not needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized ... Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083. Citation ...
- ... red blood cells (autoimmune hemolytic anemia), platelets (autoimmune thrombocytopenia), or tissues in the digestive tract (autoimmune enteropathy). ... mutations. Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub ...
- ... a reduced number of platelets in the blood (thrombocytopenia) and mild bleeding abnormalities. In contrast to mutations ... Bernard-Soulier syndrome. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub ...