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Thrombocytopenia 5
- ... syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. Int J Mol Med. 2007 May;19(5):777-82. Citation on PubMed Bourne HC, Weston ...
- ... Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S. Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: 10.1016/j.ejmg.2011. ...
- ... reduced level of circulating platelets is known as thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just ... inherited. Chronic relapsing thrombotic thrombocytopenic purpura Familial ... thrombotic thrombocytopenic TTP Genetic ...
- ... disorder 11q- deletion syndrome 11q23 deletion disorder Jacobsen thrombocytopenia Genetic Testing Registry: 11q partial monosomy syndrome Jacobsen ... Non-Compaction. Circ Res. 2022 Aug 19;131(5):371-387. doi: 10.1161/CIRCRESAHA.121.319955. ...
- ... rarest form of the condition, accounting for about 5 percent of affected individuals, and is usually the ... von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):301-325. doi: 10.1182/bloodadvances.2020003264. ...
- ... people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which ... features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will ...
- ... major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.Hemolytic anemia occurs when red ... shortness of breath, and a rapid heart rate.Thrombocytopenia is a reduced level of circulating platelets, which ...
- ... disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping ... same genetic cause, Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia are sometimes collectively referred ...
- ... affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of ... to break down earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. ...
- ... numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized ...