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Results 1 - 10 of 40 for Thrombocytopenia 2
  1. ... pass X-linked traits to their sons. Eczema-thrombocytopenia-immunodeficiency syndrome IMD2 Immunodeficiency 2 Wiskott syndrome Genetic Testing Registry: Wiskott-Aldrich syndrome ...
  2. ... 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
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... result in seizures), a decrease in blood platelets (thrombocytopenia), ... deletion syndrome have developmental delays, including delayed growth ...
  8. ... 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. ...
  9. ... 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- ...
  10. ... 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. ...
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