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Thrombocytopenia 2
- ... pass X-linked traits to their sons. Eczema-thrombocytopenia-immunodeficiency syndrome IMD2 Immunodeficiency 2 Wiskott syndrome Genetic Testing Registry: Wiskott-Aldrich syndrome ...
- ... on the investigation and management of primary immune thrombocytopenia. Blood. 2010 Jan 14;115(2):168-86. doi: 10.1182/blood-2009-06-225565. Epub 2009 Oct 21. Citation on PubMed Rodeghiero F, Stasi R, ... Citation on PubMed
- ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 ...
- ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 ...
- ... cause bleeding issues in people with GNE-related thrombocytopenia. Muscle weakness (myopathy) has also been reported in some individuals. Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase DMRV GLCNE IBM2 Uae1 ...
- ... bruising caused by a decrease in blood platelets (thrombocytopenia), bone abnormalities such as bone pain and fractures, and joint conditions such as arthritis.Types 2 and 3 Gaucher disease are known as neuronopathic ...
- ... result in seizures), a decrease in blood platelets (thrombocytopenia), ... deletion syndrome have developmental delays, including delayed growth ...
- ... PD, Balamohan SM, Raskind WH, Kacena MA. Inherited thrombocytopenia due to ... Mutat. 2005 Oct;26(4):390-2. doi: 10.1002/humu.20233. No abstract available. ...
- ... families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ... gene mutations. Blood. 2004 Jan 15;103(2):456-64. doi: 10.1182/blood-2003-05- ...
- ... disorder 11q- deletion syndrome 11q23 deletion disorder Jacobsen thrombocytopenia ... for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet Med. 2015 Feb;17(2):143-8. doi: 10.1038/gim.2014.86. ...